Anomalies of the urinary system. Malformations of the urinary system in newborns Anomalies in the development of the genitourinary system

Malformations of the genitourinary system - one of the most numerous groups of congenital anomalies, including: damage to the kidneys (organs that purify the blood and form urine), ureters (channels leading from the kidneys to the bladder), bladder (the organ that contains urine), the urethra (the channel through which urine is released from the bladder), and the female and male genitalia. The male reproductive organs are the penis, prostate and testicles. Female genitalia - vagina, uterus, fallopian tubes, ovaries.

Malformations of the genitourinary system is perhaps the most numerous, they occur in every tenth newborn. Some of them are minor (for example, doubling of the ureters coming from one kidney to the bladder). They can be diagnosed only with the help of X-ray, ultrasound, or during surgery for a related or unrelated problem. Others can cause complications such as urinary tract infections, obstruction, pain, and kidney failure.

What causes malformations of the genitourinary system?

Some problems and diseases of the genitourinary system are inherited from parents who have such a disease, or are carriers of its gene. However, the specific causes of most of the anomalies are unknown. Environmental and genetic factors likely play a role in shaping the organs of the genitourinary system. A family in which there is a child with such a defect must be consulted by a geneticist. The specialist will acquaint you with the information known about the disease and the risk of repeating it in future generations.

How are genitourinary malformations diagnosed?

Many genitourinary deficiencies are diagnosed before or immediately after birth using an ultrasound examination (US). After birth, ultrasound or other diagnostic methods are recommended to get more information about the shape and function of the kidneys and other organs of the genitourinary system.

What are the most common malformations of the genitourinary system?

The following deficiencies of the genitourinary system are more often diagnosed: agenesis of the kidneys, hydronephrosis, polycystic kidney disease, multicystic kidney disease, urethral stenosis, exstrophy of the bladder and epispadias, hypospadias, intersexualism.

What is renal agenesis?

Renal agenesis or renal agenesis is the congenital absence of one or both kidneys. Approximately 1 in 4,000 babies are born without a single kidney (bilateral or bilateral renal agenesis). Since the kidneys are vital organs, their absence is incompatible with life. Therefore, a third of these children are born dead or die in the first days of life.

Children with bilateral renal agenesis usually have other malformations of the heart and lungs. In the absence of kidneys, urine is not formed - the main component of amniotic fluid. The lack of amniotic fluid leads to a violation of the development of the lungs, causes the formation of abnormal facial features and limb deficiencies.

Approximately 1 in 550 babies are born with unilateral renal agenesis. These children can lead healthy lives, although they are at risk of kidney infections, kidney stones, high blood pressure, and kidney failure. Some newborns have other malformations of the genitourinary system, which can later significantly affect overall health.

What is hydronephrosis?

Hydronephrosis is an expansion of the pelvis of one or both kidneys due to the accumulation of urine in them while preventing its free outflow. Severe hydronephrosis is diagnosed in 1 in 500 pregnancies during an ultrasound examination. The cause of impaired outflow may be the posterior urethral valves (they are located at the junction of the bladder into the urethra).

The obstruction that results in hydronephrosis is often caused by a piece of tissue where urine is released from the bladder. From the overflowing bladder of the fetus, urine returns back to the kidneys, presses on them, seriously damaging them. If hydronephrosis is diagnosed prenatally, the doctor will do several follow-up ultrasounds to see if the condition is getting worse. Some newborns with hydronephrosis are frail at birth, have difficulty breathing, kidney failure, and infection. In severe cases, surgery is recommended to remove the blockage, although there is no cure. Many moderate forms of hydronephrosis can be cured without the help of a surgeon.

Sometimes hydronephrosis can seriously threaten the life of the fetus, so in such cases, a shunt is inserted into the bladder, which would release urine into the amniotic fluid before birth. Prenatal treatment of such malformations has become the most successful form of fetal surgery in our time.

A block for the outflow of urine is also possible in places where the ureter connects to the kidney. The severity of obstruction varies widely: from minor to the development of renal failure. Surgery is recommended in the first or second year of life to clear the obstruction and prevent further complications.

What is polycystic kidney disease?

Polycystic kidney disease is a hereditary disease, manifested by the formation of multiple cysts in the kidneys, impaired renal function. There are two forms of this disease: autosomal dominant and autosomal recessive. In addition to kidney failure, it can be complicated by kidney infections, pain, high blood pressure, and other complications.

Autosomal dominant form of polycystic kidney disease is one of the most common genetic diseases, with an incidence of approximately 1 in 200-1000. Most patients have a family history of the disease, i.e. inherited from one of the parents, but in a quarter of patients, polycystic kidney disease occurs for the first time. Symptoms usually appear in their 30s or 40s, but they can occur in children.

Autosomal recessive polycystic kidney disease is relatively rare, but kidney cysts appear before the baby is born. Approximately 1 out of 10,000-40,000 babies is born with this pathology. Newborns with severe polycystic kidney disease die in the first days of life. Children with moderate polycystic disease live up to 10-20 years. This form of polycystic kidney disease is inherited from both parents, who pass the disease gene on to their child.

Drug treatment can treat additional problems that may arise as a result of polycystic kidney disease - high blood pressure and genitourinary infections. If kidney failure develops, dialysis is prescribed - a blood purification procedure. Sometimes a kidney transplant is needed.

Kidney cysts are also characteristic of other diseases: multicystic kidney disease, which is diagnosed in about 1 in 40,000 babies, a number of genetic syndromes. Multicystic disease can cause death in the neonatal period if both kidneys are affected. It is believed that multicystic kidney disease is the result of blockage of the urinary canal in the early stages of fetal development. Children with only one kidney affected may have other complications, such as urinary infections.

Even if the diseased kidney does not perform its functions (which may be an indication for its removal), the child can live a normal life with one healthy one.

What is bladder exstrophy and epispadias?

Bladder exstrophy is an anomaly characterized by underdevelopment of the anterior wall of the bladder and its placement outside the abdominal cavity. In addition, the skin of the lower abdomen is not fully formed, with widened spaces between the pelvic bones. Anomalies of the genitals are almost always combined with exstrophy of the bladder. Bladder exstrophy, occurs in 1 in 30,000 newborns, boys are affected 5 times more often than girls.

Epispadias combines the imperfections of the urethra and genitals. Often it is diagnosed together with bladder exstrophy, but it can also develop independently. In boys, the urethra is usually short and bisected, with an opening on the upper surface of the penis. The penis in such cases is also short and flattened. In girls, the clitoris may be bifurcated, and the urethral opening may be placed abnormally. About half of children with epispadias have urinary problems (enuresis).

Bladder exstrophy and epispadias are corrected surgically. Some sick children require multi-stage surgical interventions in the first years of life to normalize bladder function and correct the appearance of the genitals. Children with exstrophy of the bladder, surgery is performed in the first 48 hours of life. During the operation, the bladder is placed in the pelvis, the anterior wall of the abdomen is closed, and the pelvic bones are reduced to their normal position. Girls at the same time undergo surgery on the genitals. However, boys undergo a similar procedure at the age of 1 to 2 years. Additional surgery may be performed before the age of 3 years to normalize urination. Studies show that 85% of operated babies go on to live healthy lives.

What is hypospadias?

hypospadias is a fairly common penis deficiency affecting approximately 1% of all male newborns. The urethra (urethra) does not reach the top of the penis, but vice versa - the urethral opening is located anywhere on the surface of the penis.

Hypospadias is usually diagnosed when examining a newborn. Affected boys should not have their foreskin circumcised, as this may be necessary for surgical repair of the defect. Appropriate surgery is performed between the ages of 9 and 15 months. Without surgical treatment, boys will have problems urinating, and as adults they will feel sharp pain during intercourse.

What is indeterminate genitals or intersex?

Babies who are diagnosed with indeterminate genitalia have external genitalia that look neither male nor female, or have some features of both. For example, a girl may be born whose clitoris is so large that it resembles a penis, or a boy may have testicles along with female-type external genitalia. Approximately 1 in 1000-2000 newborns are affected.

There are many causes of indeterminate genitalia, including chromosomal and genetic disorders, hormonal disorders, enzyme deficiencies, and undetermined abnormalities in fetal tissue that later becomes genitalia. Most often, the cause of this is a hereditary disease called congenital adrenal hyperplasia. Some of its forms are accompanied by a violation of the kidneys, which sometimes causes death. Congenital adrenal hyperplasia at an early age is caused by an enzyme deficiency that leads to excessive production of male hormones (androgens) in the adrenal glands. An increased amount of male hormones causes changes in the female genitalia according to the male pattern. In such cases, hormonal therapy is carried out throughout life. Sometimes surgical correction of the clitoris is used. Congenital adrenal hyperplasia can be diagnosed prenatally using a special technique. Prenatal treatment can have positive results.

Another cause of intersexism is androgen insensitivity syndrome. Affected babies have a male set of chromosomes (XY), but due to genetic disorders, their cells are sensitive to androgens - male hormones. Children with complete androgen insensitivity syndrome have testicles that are located predominantly in the abdominal cavity and external female genital organs, but they do not have ovaries and uterus. Such babies grow and develop like women, but during puberty they require hormonal treatment. Babies with partial syndrome have cells, are partially responsive to androgens, and tend to have indeterminate genitalia.

A number of chromosomal abnormalities are also the cause of indeterminate genitalia. So, for dysgenesis dysgenesis, a characteristic male set of chromosomes (XY), external and internal female genitalia, or indeterminate genitalia and some combinations of male and female internal genital organs.

When a baby is born with indeterminate genitalia, a series of diagnostic tests must be performed to determine the sex of the newborn. These include a general examination, a blood test (including ultrasound and certain hormone levels), a urinalysis, and sometimes an ultrasound or surgery to look at internal organs. The results of the analyzes will indicate what type the child will develop and, possibly, which gender should be indicated in the metric. Hormone therapy or surgical correction of the genitals is recommended. Sometimes doctors advise surgical correction for boys who have too underdeveloped penis, and recommend that they be raised like girls. In some cases, doctors advise raising the child as a girl and postponing surgery until later to see how the external genitalia will develop and check how the child feels - like a boy or a girl. This is quite difficult for both the child and the family as a whole, so consultations with a psychologist are necessary.

Publication date: 2.11.10

PRE - AND PERINATAL PATHOLOGY.

PATHOLOGY OF THE PLACENTA.

Prenatal pathology includes all pathological processes and conditions of the fetus from the moment of fertilization to childbirth. The founder of the doctrine of prenatal pathology is him. scientist Schwalbe, whose works date back to the beginning of the twentieth century. The period from 196 days in development and the first 7 days after childbirth is called pernatal (“around childbirth”) and, in turn, is divided into antenatal, intra- and postnatal or prenatal (the prenatal period is wider, includes everything that happens up to 196 days), during childbirth and postpartum, neonatal. The entire development of the fetus can be divided into 2 periods: progenesis (the time of maturation of gametes, germ cells) and cymatogenesis (the period of fetal development from the moment of fertilization to childbirth) Cymatogenesis is divided into:

Blastogenesis - up to 15 days

Embryogenesis - up to 75 days

Fetogenesis - early - up to 180 days and late - 280 days

During the period of progenesis, the maturation of germ cells - eggs and spermatozoa - their damage can occur, associated both with exogenous influences (radiation, chemical substances), and with hereditary changes in chromosomes or genomes. This is accompanied by mutations and hereditary diseases, including congenital defects, enzymopathies. Congenital malformations are observed more often in children whose parents are older than 40-45 years.

Cymatopathies are pathological processes that occur during cymatogenesis. The main pathology of this period are malformations, accounting for 20% or more.

Congenital malformations are persistent changes in an organ or the whole organism that go beyond variations in their structure and, as a rule, are accompanied by dysfunction. The causes of congenital malformations can be divided into: endogenous and exogenous.

Mutations are considered to be endogenous causes (it is believed that 40%)

Mutations can be: gene - a persistent change in the molecular

gene structure

chromosomal - a change in the structure of chromosomes

genomic - a change in the number of chromosomes, more often

trisomy.

With genomic mutations, the fetus most often dies. The role of natural mutagenesis is small. Induced mutations play an important role.

Mutagenic factors: ionizing radiation

chem. in-va (cytostatics)

viruses (rubella)

overmaturation of germ cells (lengthening the time from the moment of full maturation of germ cells to the formation of a zygote causes a complex of pathological changes in them.)

Exogenous causes include:

Radiation under its action during critical periods of embryo development. Irradiation in the first 3 months of pregnancy leads to congenital malformations of the predominantly nervous system.

Mechanical influences are the result of amniotic adhesions, which is the mechanism for the formation of a defect, and not its cause;

Chemical factors, medicinal substances (anticonvulsants thalidomide);

Alcohol - leads to alcoholic embryopathy, later there is a lag in weight, height, mental development, there is microcephaly, strabismus, a thin upper lip, heart defects in the form of a septal defect are frequent

Maternal diabetes - diabetic embryopathy with the formation of congenital malformations, skeletal malformations, heart defects, nervous system, high fetal weight, cushingoid syndrome, hyperplasia of the islets of Langerganas. There are signs of immaturity, cardiohepatosplenomegaly, microangiopathy, pneumonia;

Viruses (cytomegaly)

A pattern in the period is dysontogenesis with any effect on the fetus. The time of exposure to a teratogenic agent matters: different agents at the same time of fetal development give the same congenital malformations, and the same agent at different times gives different malformations

CONGENITAL DEFECTS.

Congenital malformations of the central nervous system.

They take 1st place. The etiology is varied. From exo - the influence of the rubella virus, cytomegaly, Coxsackie, poliomyelitis, etc. has been accurately established. Drugs (quinine, cytostatics), radiation energy, hypoxia, gene mutations, chromosomal b-ni.

Anencephaly - agenesis of the brain, there are no anterior, middle and posterior sections. The medulla oblongata and spinal cord are preserved. In place of the brain conn. tissue rich in blood vessels.

Acrania is the absence of the bones of the cranial vault.

Microcephaly - hypoplasia of m. combined with a decrease in the volume of the bones of the cranial vault and thickening.

Microgyria - an increase in the number of cerebral convolutions with a decrease in their size.

Porencephaly is the appearance of cysts communicating with the lateral ventricles.

Congenital hydrocephalus - excessive accumulation of cerebrospinal fluid in the ventricles (internal) or in the subarachnoid spaces (external) - atrophy of the brain due to impaired outflow of cerebrospinal fluid.

Cyclopia - one or two eyeballs in one eye socket

Hernia of the brain and spinal cord - meningocele - the presence of only membranes in the hernial sac, meningoencephale - and the brain, myelocele - hernia of the spinal cord.

Rasischis is a complete defect in the posterior wall of the spinal canal, soft tissues of the skin and meninges, and the spinal cord.

Congenital malformations of the digestive system.

They are found in 3-4% of autopsies of the dead and account for 21% of all congenital malformations.

Atresias and stenoses are observed in the esophagus, duodenum, proximal segment of the jejunum and distal ileum, in the region of the rectum and anus. There may be tracheoesophageal fistulas in the esophagus leading to severe aspiration pneumonia. Atresias can be single and multiple. In the area of atresia, the intestine looks like a dense connective tissue cord, which, under the influence of peristalsis, can stretch and break.

Doubling of individual sections of the intestine - more often only concerns the mucosal membrane, the muscular membrane is common. The duplicated area may be in the form of a cyst, diverticulum, or tube. The defect is complicated by bleeding, inflammation, necrosis with perforation.

B-n Hirschsprung - segmental agangliosis megaoclonus - the absence of neurons in the intermuscular plexus of the lower part of the sigmoid and rectum. Due to the preservation of the submucosal (Meissner) plexus, the aganglionic section of the intestine is spastically contracted, above it the intestine is stretched with meconium or feces, followed by compensatory hypertrophy of the muscular membrane. Patients suffer from constipation, coprostasis, obstruction develops.

Hypertrophic pyloric stenosis is a congenital hypertrophy of the muscles of the pyloric region with a narrowing of its lumen. Persistent vomiting is observed, from 3-4 weeks until the development of coma from the loss of chlorides.

Malformations of the digestive tract associated with the preservation of some embryonic structures. These include a hernia of the navel - a defect in the anterior abdominal wall with a protrusion of a translucent hernial sac formed by the umbilical cord and amnion, containing loops of the small intestine.

Eventation of the abdominal organs with its hypoplasia - the abdominal wall is open, the hernial sac is absent.

Cysts and fistulas in the umbilical ring - due to persistence of the vitelline duct.

Meckel's diverticulum is a finger-shaped protrusion of the wall of the ileum.

Congenital malformations of the liver and biliary tract - polycystic liver, atresia and stenosis of the extrahepatic bile ducts, agenesis and hypoplasia of the intrahepatic bile ducts in the portal tract in the area of triads, leading to the development of congenital biliary cirrhosis of the liver, congenital hyperplasia of the intrahepatic ducts.

Congenital malformations of the genitourinary system.

The etiology is not associated with certain exogenous factors, but with heredity and family, and occurs with chromosomal aberrations

Renal agenesis - congenital absence of one or both kidneys, hypoplasia - congenital decrease in the mass and volume of the kidneys, can be unilateral and bilateral, kidney dysplasia - hypoplasia with the simultaneous presence of embryonic tissues in the kidneys, large cystic kidneys - an increase in the kidneys with the formation of numerous small cysts, fusion of the kidneys (horseshoe kidney), and dystopia. - are not clinically manifested.

Congenital malformations of the urinary tract:

Doubling of the pelvis and ureters

Agenesia, atresia, ureteral stenosis

Megaloureter - a sharp expansion of the ureters

Exstrophy - as a result of his aplasia of his lane. walls, peritoneum and skin in the pubic area.

Bladder agenesis

Atresia, stenosis of the urethra, hypospadias - a defect in the lower wall, epispadias - the upper wall of the urethra in boys.

All malformations lead to a violation of the outflow of urine and, without timely surgical treatment, lead to renal failure.

Congenital malformations of the respiratory system:

Aplasia and hypoplasia of the bronchi and lungs

Lung cysts are multiple and single, later leading to the development of bronchiectasis

Tracheobronchomalacia - hypoplasia of the elastic and muscular tissue of the trachea and main bronchi, leading to the formation of diverticula or diffuse expansion of the trachea and bronchi

Congenital emphysema due to cartilage hypoplasia. Elastic and muscular tissue of the bronchi.

All congenital malformations of the lungs, if they are compatible with life, are easily complicated by a secondary infection with the development of xp. bronchitis and pneumonia with the development of cor pulmonale.

Congenital malformations of the musculoskeletal system:

System flaws:

Fetal chondrodystrophy and achondroplasia (impaired development of bones of cartilaginous genesis, bones of connective tissue genesis develop normally - shortening and thickening of the limbs

Osteogenesis imperfecta - congenital bone fragility

Congenital marble b-n - pronounced osteosclerosis with a simultaneous violation of the development of hematopoietic tissue

Congenital dislocation and dysplasia of the hip joint

Congenital amputation or amelia of limbs

Phocomelia - underdevelopment of the proximal limbs

Polydactyly - an increase in the number of fingers

Syndactyly - fusion of fingers.

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GBOU VPO "ORENBURGSTATE MEDICAL ACADEMY" MINISTRY

DEPARTMENT OF HISTOLOGY, CYTOLOGY AND EMBRYOLOGY

ESSAY

on the topic: « Anomalies in the development of the organs of the urinary system»

ondiscipline: Histology

Orenburg 2014

Introduction

1. Anomalies in the development of the kidneys

2. Anomalies in the development of the bladder

3. Methods for diagnosing malformations of the urinary system

Conclusion

Bibliography

Introduction

The urinary system is a collection of organs that produce and excrete urine. The urethra is the tube that carries urine from the productive areas of the kidneys to the bladder, where it is stored and then expelled out through a channel called the urethra. With congenital abnormal development (anomalies) of the urinary system, either the production or excretion of urine is impaired.

Anomalies of the urinary system called violations in the development of the organs of the genitourinary system, which do not allow the body to function normally.

Urinary system defects vary in severity from minor to life-threatening. Most are serious, requiring surgical correction. Other defects do not cause dysfunction of the urinary system, but make it difficult to control urination.

1. Anomalies of developmentkidney

Unilateral aplasia (agenesis) of the kidney- the absence of one of the kidneys as a result of a stop in the development of the organ. Often, with this defect, there is no corresponding vas deferens. Aplasia usually does not manifest itself in any way and is detected during a preventive examination. At the same time, in most cases, there is no ureter, the mouth of the ureter and the corresponding part of the bladder triangle. However, in 15% of cases of agenesis on the side of the lesion, the lower third of the ureter is determined. Often A.P. combined with other anomalies: monorchism, atresia of the anus and rectum, malformations of the small and large intestine.

Aplasia is accompanied by an increase in the functional load on the opposite kidney. Bilateral aplasia is an extremely rare pathology incompatible with life.

Doubling of the kidney The organ is made up of two parts. As a result, the size of the doubled kidney is larger than normal. The upper and lower halves are separated by a furrow, which can have varying degrees of severity, while the upper part of the organ is always smaller in size than the lower one. The two parts have separate blood supply. Doubling may or may not be complete. The difference lies in the fact that with full doubling, the upper and lower halves of the kidney have their own pelvicalyceal system. At the same time, the pyelocaliceal system in the lower part is formed normally, and in the upper part it is underdeveloped. From each pelvis departs along the ureter - a doubling of the ureter (it can also be complete: both ureters flow into the bladder on their own; and incomplete: the upper ureter merges with the lower one). Treatment of the pathology itself is often not required. However, a double kidney is prone to the development of various pathological processes (hydronephrosis, pyelonephritis, kidney tuberculosis, urolithiasis). In these cases, treatment is carried out appropriate to the disease, as well as treatment aimed at eliminating the root cause (impaired urodynamics, impaired blood flow).

Accessory kidney- in fact, there are 3 organs. The accessory kidney has a separate blood supply and its own ureter, which can drain into the bladder or into the ureter of the main kidney. The sizes of additional P. are always less than the main and can fluctuate over a wide range. Additional P. is always located below the main one (lumbar, iliac or pelvic location). In the absence of complications, tactics are expectant. The indication to removal of additional P. is: hydronephrosis, vesicoureteral reflux, nephrolithiasis, pyelonephritis, tumor.

Kidney size abnormalities

Hypoplasia of the kidney- a decrease in size as a result of underdevelopment, but at the same time without disturbances in the structure and functioning of the organ. Often the pathology is unilateral. Treatment for kidney hypoplasia is necessary only in the presence of complications (pyelonephritis, arterial hypertension).

Anomalies in the location (dystopia) of the kidneys

During fetal development, the developing kidney moves from the pelvic region to the lumbar region. Violation of this process of movement leads to the formation kidney dystopias. This defect can be unilateral or bilateral. Allocate:

Lumbar dystopia- the kidney is located lower than usual and is palpated in the hypochondrium. In this case, the diagnosis of nephroptosis is sometimes erroneously established. A distinctive feature of nephroptosis from dystopia is the fact that when lowered, the vessels are directed from top to bottom to the kidney, and with dystopia they go perpendicularly. Rarely dystopic P. causes pain in the abdomen.

Iliac dystopia- the organ is located in the iliac fossa, the vessels usually have a multiple character and depart from the common iliac artery. The main symptom of iliac dystopia is pain in the abdomen. There may also be signs of a violation of the outflow of urine.

Pelvic dystopia- the organ is located deep in the pelvis, between the bladder and the rectum. This arrangement disrupts the functioning of the rectum and bladder and is accompanied by corresponding symptoms.

Thoracic dystopia- the organ is located in the chest cavity. This defect is rare and occurs mainly on the left. It can often be manifested by the appearance of pain, especially after eating. Usually diagnosed incidentally.

Cross dystopia- one of the kidneys in the process of its intrauterine development moves to the opposite side. In this case, 2 organs are immediately determined on one side. Occurs rarely. It must also be said that cross dystopia is sometimes accompanied by a fusion of two kidneys. If two kidneys are detected on one side at once, nephroptosis should be excluded. Surgical treatment is indicated only when secondary pathological processes (pyelonephritis, nephrolithiasis, hydronephrosis, tumor) are detected.

Anomalies of the relationship - fusion of the kidneys

Depending on the type of kidney fusion, several types of fusion are distinguished:

biscuit kidney- fusion of the kidneys on the medial surface.

S-shaped- fusion of the upper pole of one kidney with the lower pole of the other.

L-shaped (rod-shaped)- the upper pole of one kidney also fuses with the lower pole of the other, but at the same time the first kidney unfolds, as a result, an organ resembling the letter L is formed.

horseshoe- fusion of the upper or lower poles. As a result, the organ resembles a horseshoe.

Abnormalities in the number of kidneys

aplasia(agenesis) of the ureter is very rare and accounts for 0.2% of anomalies of the kidneys and urinary tract. Bilateral anomaly is usually combined with bilateral renal agenesis, less often with bilateral multicystic kidney. This anomaly is of no clinical significance as it is incompatible with life.

Unilateral aplasia of the ureter is also a component of renal aplasia and the result of the absence of a ureteral germ. Sometimes the ureter is found in the form of a thin fibrous cord or process that ends blindly.

Diagnosis of aplasia of the ureter is based on the data of excretory urography, which allows you to establish the absence of function of one of the kidneys. Cystoscopy reveals hypoplasia or complete absence of half of the bladder triangle. The opening of the ureter may be located in the usual place, but be narrowed. With prolonged observation, you can find the absence of its contractions. Sometimes the hole looks like a blind recess, which is determined when the catheter is inserted, or ends blindly at any level. In these cases, cystography is quite informative. With a rudimentary orifice of the ureter, it is recommended to conduct an ultrasound examination, computed tomography.

The need for treatment arises only with a blind ending of the ureter, since this anomaly can cause an inflammatory process, sometimes with suppuration (empyema), and the formation of a stone. In the case of scarring, the peripheral opening of the ureter forms a closed cavity, resembling a cyst or tumor of the abdominal cavity.

Such complications are manifested by pain in the corresponding inguinal or epigastric region, dysuria, fever of the intermittent type, and symptoms of chronic intoxication. Urine contains a large number of leukocytes, protein, bacteria. In the presence of a stone, macro-or microhematuria is detected.

Treatment is to remove the stump of the ureter.

Doublingureter- one of the most numerous anomalies (1:140). It is caused by the simultaneous growth of two ureters from two ureteral sprouts of nephrogenic blastema or splitting of a single ureteral sprout. One of the ureters can develop normally, and the second - pathologically. If several anlages of the ureter are formed in the caudal section of the duct of the primary kidney, not only doubling, but also tripling of morphologically complete ureters is possible. Two ureters correspond to two renal pelvises, which are urine collectors for different ends of the kidney.

In such cases, the kidneys are rarely isolated. A third, additional, kidney is formed.

Sometimes two or more ureters depart from the pelvis of a non-double kidney, or the proximal end of one of the ureters ends blindly. Both ureters usually pass in the same fascial sheath.

Complete (ureter duplex) and incomplete (ureter fissus) doubling of the ureters is observed. With incomplete duplication, both ureters depart from the renal pelvis down to the bladder and merge into one at different distances from it. In this case, one hole appears in the bladder - a split ureter. Sometimes the ureters merge near the bladder, intravesically (intramurally), or even at the opening. One of the ureters flows into the other at an acute angle.

As a rule, the length of both ureters from the ureteropelvic segment to the confluence is different, and the sections of both ureters above it are in different phases of peristalsis. With incomplete doubling, splitting is observed mainly in the upper third of the ureter, less often in the middle, and in 1/3 of patients in the lower.

Doubling of the ureter - both complete and incomplete, is more often unilateral. Localized on both sides with the same frequency.

With complete duplication, both ureters go separately to the bladder. They are closely adjacent to the walls, according to the Weigert-Meyer law they cross in the proximal and distal sections and open with two holes on the corresponding half of the bladder triangle (one above the other or next to it), if there is no ectopia of one of them. In the bladder, the openings of the ureter of the upper pelvis are almost always contained below the openings of the ureter of the lower pelvis. Vesicoureteral reflux is more often observed with complete doubling of the ureters. This is due to the short intravesical section of the ureter, which opens proximally. Occasionally, there is a blind ending of one of the doubled ureters. The anomaly is manifested by pain in the epigastric region and symptoms of the inflammatory process.

Doubling of the ureters is often combined with other malformations: the absence of both or one ureteral openings, narrowing (ureter stricture, ureterocele, ectopia of the opening of one of the ureters (often the lower one), segmental or widespread dysplasia of the neuromuscular elements of the ureters, aberrant vessels, adhesions, fibrous bands, etc. .P..

With a double ureter, characteristic symptoms are not observed. For a long time, the anomaly has an asymptomatic course. Clinical manifestations occur when complications occur. Symptoms are determined by the nature and stage of the complication or associated anomalies.

bladder kidney treatment

2. Anomalies in the development of the bladder

Anomalies of the urinary duct. The urinary duct, or urachus, in the human embryo is a remnant of the alantois and is trophied with the transition of the fetus to the placental blood flow at an early stage of intrauterine development. Despite the loss of functions (supplying the fetus with oxygen, proteins, excretory function), the reverse development of allantois is not observed and the former urinary duct is preserved. It is involved in the formation of the umbilical cord, and eventually turns into the median umbilical ligament. By the time of birth, the urinary duct is obliterated and takes the form of a continuous cord, which gradually atrophies.

In some cases, the urinary duct remains open throughout (complete non-closure - vesico-umbilical fistula) or in separate areas (blind ending of an uncovered external area - umbilical fistula; internal section - bladder diverticulum, urachus cyst).

In some cases, particularly in premature infants, obliteration of the urinary duct occurs in the first year of life. But often there is a partial non-closure, which is not clinically manifested in adults.

Partial and complete cleft of the urinary duct is an anomaly, but it is paid attention only when certain symptoms appear. Complete non-closure of the urinary duct - vesico-umbilical fistula - is extremely rare. More often there is a failure of one of its sections: umbilical - umbilical fistula; medium - urachus cyst; vesicular - bladder diverticulum.

If the urinary duct is completely open, there is a discharge of urine from the navel, more often during urination. In this case, most of the urine is excreted through the urethra. This ratio depends on the diameter of the lumen of the open duct. Sometimes the excretion of urine from the navel stops (swelling of the mucous membrane of the urinary duct, filling it with granulations or protein mass), and then resumes. The skin of the umbilicus is macerated through constant leakage of urine. In some cases, there is a tubercle of granulation tissue (a section of the preserved umbilical cord).

Non-closure of the middle part of the urinary duct is also quite rare. At the same time, since both ends of the duct are obliterated, a blind section of the canal remains between them. The epithelium lining the canal produces mucus, which, accumulating in the canal, stretches its bends, giving them a rounded shape. Gradually, a cyst is formed at the site of formation, which is palpated between the navel and the bladder in the form of a round or oval, inactive tumor of various sizes.

Bladder agenesis, that is, its congenital absence, an extremely rare anomaly. It is usually combined with other malformations and incompatible with life.

Bladder doubling observed very rarely. With this anomaly, there is a partition between the right and left halves of the bladder. An opening of the ureter opens in each half. Each half of the bladder has a neck. Complete doubling of the bladder is combined with a doubling of the urethra.

With incomplete duplication, the bladder has a common neck and one urethra. Very rarely there is a complete septum of the bladder, which divides it in the sagittal or frontal direction.

Treatment consists of cutting out the septum of the bladder.

Congenital hypertrophy of the muscle that pushes urine (detrusor), is very rare. The patency of the vesicoureteral segment is not disturbed. The anomaly leads to damage to the upper urinary tract and kidneys due to compression of the intravesical parts of both ureters.

The only treatment is to remove the bladder and replace it with a bowel loop.

bladder diverticulum- saccular protrusion of its wall. It can be single or multiple. The cause of congenital diverticulum is the abnormal formation of the bladder wall. More often, a diverticulum is formed near the openings of the ureters and in the lateral sections of the bladder, less often at its apex or in the bottom area. The wall of the diverticulum consists of the same layers as the wall of the bladder. Often there is a large diverticulum, which is larger than the bladder in volume.

Anomalies in the development of the urethra include:

Doubling of the urethra.

Congenital diverticulum of the urethra.

Hypospadias is a cleft in the posterior wall of the urethra. This developmental anomaly is more common in boys.

Epispadias - non-closure of the dorsal (anterior) wall of the urethra. Epispadias occurs in 1 in 50,000 newborns, five times more common in boys than girls.

Infravesicular obstruction is an obstruction to the outflow of urine at the level of the bladder neck or urethra. Infravesicular obstruction may be due to congenital contracture of the bladder neck, congenital urethral valves, hypertrophy of the seminal tubercle, or congenital obliteration (obliteration) of the urethra.

3. MMethods for diagnosing malformations of the urinary system

For the early diagnosis of congenital malformations, ultrasound during pregnancy plays a huge role. It allows you to determine with great accuracy oligohydramnios, which is most often the result of a decrease in the amount of urine excreted by the fetus in the absence of a kidney or stagnation of urine in the urinary tract. If the defect appears before 28-32 weeks of pregnancy, it leads to underdevelopment of the lungs and defects in the structure of the fetal body. Diagnosis of kidney cysts and stagnation of urine in the urinary tract of the fetus to a large extent depends on the capabilities of the device. In case of suspicion of malformations of the urinary tract, childbirth should be carried out in clinics where there is a neonatologist, a pediatric nephrologist and a urologist.

In the pathological course of pregnancy, especially oligohydramnios and congenital malformations of the urinary system in relatives, it can be assumed that the malformations of the urinary system are already in the fetus. The absence of diuresis (urination) in the first two days of a newborn's life, impaired urination and a change in the amount of urine compared to the age norm should be indications for the study of the urinary system.

Kidney and urinary tract malformations are more common in children with other malformations than in the general population. In some children, the very first examination after birth reveals signs of hydronephrosis in the abdominal cavity: a significant increase in the kidneys, bladder, or huge ureters. Malformations of the spine, spinal cord, or absence of the sacral vertebrae may indicate a neurogenic bladder.

Diagnosis of insufficient kidney function is complicated by the presence in some cases of normal urination during the neonatal period. If there is a violation of urination, efforts to urinate, an intermittent stream of urine in boys, one can suspect the presence of an obstruction in the back of the urethra, and when urine flows out in drops in girls, a bladder defect. In some newborns, hydronephrosis associated with the presence of an obstruction in the urinary tract can be detected only after the second day, when the “physiological separation of a small amount of urine” passes. After ultrasound detects the expansion of the urinary tract, cystography is performed, which is based on the introduction of a contrast agent through the urethra into the bladder.

An x-ray is taken when the child urinates. The day before the cystography, on the day of the study, and two days after the study, the child should take drugs that prevent the development of infection during catheterization and the introduction of contrast into the bladder (although aseptic measures are used). The combination of cystography and ultrasound can examine the flow of urine from the bladder and through the ureters, as well as to prove the presence of an obstruction in the back of the urethra. In cases of urinary tract infection, cystography should be performed in the absence of changes on ultrasound and only after the infection has been treated.

Isotope scintigraphy is helpful in assessing kidney function. Irradiation in this study is much less.

Conclusion

Anomalies of the genitourinary system are the most common of all congenital malformations. Congenital malformations are understood as persistent changes in tissues or organs that go beyond variations in their structure. The formation of such defects occurs as a result of a violation of the normal course of intrauterine development of the embryo. The frequency of gross congenital malformations, accompanied by dysfunction, in the human population is 2 - 3%.

It is believed that most often anomalies of the urinary system occur due to the influence of hereditary factors and various negative effects on the fetus during fetal development. Anomalies of the urinary system can develop in a child due to rubella and syphilis transferred by the mother in the first months of pregnancy. Alcoholism and drug addiction of the mother, her use of hormonal contraceptives during pregnancy, as well as drugs without a doctor's prescription can provoke the occurrence of anomalies.

Bibliography

1. Markosyan A.A. Questions of age physiology. - M.: Enlightenment, 1974

2. Sapin M.R. - ANATOMY AND PHYSIOLOGY OF THE HUMAN with the age characteristics of the child's body. - publishing center "Academy" in 2005

3. Petrishina O.L. - Anatomy, physiology and hygiene of children of primary school age. - M.: Enlightenment, 1979

4. N. V. Krylova, T. M. Soboleva “Urinary Apparatus”, anatomy in diagrams and drawings, publishing house of the Peoples' Friendship University of Russia, Moscow, 1994.

5. “Guide to urology”, edited by N. A. Lopatkin, publishing house “Medicina”, Moscow, 1998. Free download the abstract "The human urinary system" in full

Internet sources

1. http://kotikit.ru/qanda/anomalii-mochevydelitelnoj-sistemy/

2. http://hvoroby.ru/systemy/47-anomalii-systemy.html

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Malformations of the skull, musculoskeletal system, digestive and genitourinary systems. Congenital heart defects. Clinical picture, diagnosis, treatment.

Anomalies or malformations - the occurrence of abnormalities in the structure of organs or tissue systems with a change or complete absence of function as a result of a violation of intrauterine development of the fetus.

According to WHO, malformations occur in 0.3 - 2% of births.

As a rule, malformations appear immediately at the birth of a child, much less often they appear later, when they progress with the growth of the child.

Factors contributing to the development of anomalies are called teratogenic. These factors are divided into internal and external. The action of teratogenic factors is manifested in the first weeks of pregnancy, especially from the 3rd to the 5th day and from the 3rd to the 6th week (periods of zygote implantation and organogenesis).

Internal factors - genetic defects (associated with gene and chromosomal mutations).

External factors:

1. Infectious - diseases of the mother during pregnancy (viral - measles, chickenpox, herpes; bacterial - scarlet fever, syphilis, diphtheria; protozoal - toxoplasmosis).

2.Physical - vibration, ionizing radiation, trauma during pregnancy.

3.Chronic diseases of the mother - diabetes mellitus.

Classification of malformations:

1. Changes in the size of organs:

a) hypergenesis - excessive development of an organ or part of the body;

b) hypoplasia (hypogenesis) - underdevelopment;

c) complete absence of the organ (aplasia, agenesis).

2. Change in the shape of organs - torticollis, clubfoot, horseshoe kidney.

3. Anomalies in the location of organs (ectopia, heterotopia - cryptorchidism, aberrant thyroid gland).

4. Increase in the number of organs: polydactyly, hermaphroditism.

5. Atavisms - median and lateral cysts of the neck.

6.Duplicating anomalies - "Siamese twins".

Malformations of the skull and brain.

Hydrocephalus (dropsy of the brain). Excessive accumulation of cerebrospinal fluid between the membranes of the brain or in the ventricles. The result is brain compression and atrophy.

Clinic: the head is significantly enlarged due to the vault, the fontanels are open, the seams are open, the high overhanging forehead. Progressive increase in intracranial pressure. The sharpest paroxysmal headaches are periodically noted.

Surgical treatment is the creation of an outflow from the ventricles using bypass surgery.

In emergency cases - ventricular puncture.

Craniocerebral hernia - protrusion of the brain and its membranes through a defect in the bones of the skull. 1 case per 4000 - 5000 newborns.

There are: anterior, posterior and basilar.

The meninges containing cerebrospinal fluid or brain tissue may protrude through the defect.

Treatment: surgical. The most favorable terms of treatment - up to 1 year. The results after the operation, carried out in a timely manner, are favorable. Patients after surgery physically and mentally develop correctly.

Craniostenosis. Premature fusion of the cranial sutures and discrepancy between the volume of the cranial cavity and the volume of the brain.

It occurs in about 1 in 1,000 newborns.

The skull changes shape (tower-like, laterally narrowed, in half of the cases - 2-sided exophthalmos, increased intracranial pressure, headaches, decreased vision (optic nerve atrophy).

Treatment: surgical, bilateral flap craniotomy is performed. The results are usually favorable.

Malformations of the spine and spinal cord.

Spina bifida - incomplete closure of the spinal canal, most often characterized by splitting of the vertebral arches, in which spinal hernias are formed. Usually a protrusion in the lumbar region, there may be a violation of the function of the pelvic organs, the function of the lower extremities. Treatment is surgical. Sometimes the splitting of the arches is not accompanied by a hernia, it can often be accompanied by hypertrichosis, dermoids, enuresis.

Malformations of the face.

Upper lip cleft (cleft lip). This malformation accounts for 12-14% of all childhood malformations. 1 patient per 1000 - 1500 newborns.

There are incomplete and complete forms of non-closure, in which breathing and nutrition are disturbed. Food constantly enters the nasal passage, leading to asphyxia, pneumonia.

Operation: plastic replacement of the defect is performed in the first days or at the 3rd month of life. The results are good.

Macrostomia - non-closure of the corner of the mouth on one or both sides, an excessively wide oral fissure leading to the auditory duct. Usually accompanied by constant salivation.

Treatment is operative, best between 1 and 1.5 years.

Non-closure of the palate (cleft palate). One patient per 1000 - 1200 newborns. The history of treatment goes back several centuries. Previously, obturators were used to close the defect of the palate. The main feature is the communication of the oral and nasal cavities through a gap. Food, especially liquid, enters the nose, flows out of it: colloquial speech is unclear, nasal.

Respiratory and nutritional disorders previously led to 50% mortality in such children in the first year of life. Currently, the most appropriate time for surgical treatment is 3-4 years. Before the operation, special floating obturators are used.

Neck malformations.

Congenital cysts and fistulas of the neck.

Median cysts and fistulas occur as a result of a violation of the development of the middle lobe of the thyroid gland. It is always located in the midline, manifests itself at the age of 1 - 5 years. Usually it is possible to feel a dense cord going to the hyoid bone. Fistulas are usually formed with inflammation and suppuration of cysts.

Treatment is surgical, usually at the age of 3-4 years. The fistula is usually excised to the root of the tongue with resection of the hyoid bone.

Lateral cysts and fistulas. They are less common than the median ones, located along the inner edge of the sternocleidomastoid muscles.

Surgical treatment at 3-5 years. The fistula is excised completely up to the pharyngeal wall.

Malformations of the chest.

Funnel chest. The deformity appears immediately after birth. A characteristic symptom of the “paradox of inspiration” is the retraction of the sternum and ribs during inspiration, which is most pronounced when screaming and crying.

At school and adolescence, changes caused by chest deformity are more pronounced. Violation of posture increases, thoracic kyphosis is pronounced, fatigue, tachycardia, pain behind the sternum, a clear decrease in lung excursions, pneumonia, bronchiectasis, and displacement of mediastinal organs develop.

Surgical treatment - more often resection of costal cartilage segments, T - shaped osteotomy of the sternum and after correction - fixation with metal or bone structures.

congenital heart defects.

There are 3 groups of congenital heart defects, depending on the mixing of arterial and venous blood and, accordingly, changes in the color of the skin and mucous membranes.

1. Skin color is normal. Arterial and venous blood do not mix. Defects: coarctation of the aorta, stenosis of the aorta, pulmonary artery.

2. White-type defects: atrial septal defects, non-closure of the ductus arteriosus.

3. Vices of the blue type - are characterized by the discharge of venous blood into the arterial bed.

Atrial septal defects.

They make up about 10% of all heart defects. There is a discharge of arterial blood from the left to the right atrium. Hypertension develops in the system of a small circle, children usually lag behind in development, shortness of breath, sometimes cyanosis, hypertrophy of the right heart.

The treatment is surgical, preferably up to 3-4 years.

Ventricular septal defect. According to the statistics of the Institute of Cardiovascular Surgery, this defect is observed in 17% of patients with congenital malformations.

Hemodynamic disturbances are associated with the reflux of arterial blood from the left ventricle into the right ventricle (arterial discharge).

Treatment is surgical.

Non-closure of the arterial (botallian duct).

The child lags behind in development, frequent pneumonia, pallor of the skin, systole - diastolic murmur.

Treatment is surgical.

Coarctation of the aorta (congenital stenosis of the isthmus of the aorta). According to statistics, it occurs from 6 to 14% of all birth defects. The average life expectancy with this defect is up to 30 years.

Most often, the hemodynamic picture includes two different regimes: the upper one, including the coronary system of the shoulder - head vessels, and the lower one, including the trunk, lower limbs and internal organs.

The state of decompensation can develop already in children of 1 year of age. Surgical treatment from 3 to 10 years, but surgery is also performed at the 1st year of life.

Operation: resection and plasty of the site of narrowing..

Tetralogy of Fallot is a blue (cyanotic) type of defect.

The defect is classic among all the defects of the cyanotic type. It makes up 14% of all birth defects and 75% of blue defects.

Anatomically:

1) narrowing of the pulmonary artery;

2) ventricular septal defect;

3) displacement to the right (dextraposition) of the aortic orifice and its location above both ventricles (aorta sitting astride the interventricular septum);

4) hypertrophy of the wall of the right ventricle.

The defect in 1888 was first described by the French pathologist Fallot. Cyanosis develops from the first days or weeks. Dyspnea. By the age of 2, the fingers are “drumsticks.” Children rest while squatting (a very characteristic symptom) - pressure in the upper aorta rises due to compression of the large arteries of the lower extremities, this makes the collaterals between the large and small circles of blood circulation work more intensively . During attacks - loss of consciousness.

Shortness of breath - cyanotic attacks !!!

Surgical treatment: elimination of pulmonary artery stenosis, elimination of a ventricular septal defect, excision of the annulus fibrosus of the right ventricle in the region of the pulmonary artery mouth.

Pentade of Fallot: tetrad of Fallot + atrial septal defect.

Malformations of the digestive organs.

The yolk duct connects the midgut with the yolk sac, from which the embryo receives nutrition for the first 2-3 weeks of life. It becomes empty by the 8th week of intrauterine life, and by the 3rd month it completely atrophies. In cases where the yolk duct remains open, an umbilical fistula occurs.

The urinary tract (urachus) occurs at 2-3 months of intrauterine life during the differentiation of allantois. The upper part of the allantois forms the urinary tract, through which the urine of the fetus passes into the amniotic fluid. Obliteration begins from the 5th month of intrauterine life. With non-closure, a urinary fistula is also formed in the umbilical region.

Meckel's diverticulum - a blind process extending from the ileum - a variant of incomplete fusion of the distal part of the vitelline duct.

Hernia of the umbilical cord. Part of the abdominal wall in the area of the umbilical ring is covered with a thin transparent membrane. The protrusion passes into the umbilical cord.

Surgical treatment in the first hours.

Pyloric stenosis - hypertrophy of the pylorus muscles and a violation of their innervation Manifested at 3-4 weeks.

Surgical treatment - pyloroplasty.

Hirschsprung's disease is a congenital underdevelopment of the nerve plexuses in the recto-sigmoid colon with the expansion of the overlying sections. Hypertrophy, a sharp expansion of the large intestine, an increase in the volume of the abdomen, constipation.

Treatment is surgical.

Atresia of the anus and rectum - 1 in 10,000. Surgical treatment in the first hours.

Malformations of the genitourinary system

Cryptorchidism is a delay in intrauterine movement into the scrotum of one or both testicles, which linger in the retroperitoneal space or inguinal canal.

Treatment - operational.

Aplasia is the absence of a kidney.

Hypoplasia - a decrease in the size and functional ability of the kidney.

Dystopia - moving the kidney (into the pelvis, gr. cell, etc.).

Horseshoe kidney - fusion of the upper or lower poles of the kidneys

Epispadias - cleft of the anterior wall of the urethra. 1:50.000.

Hypospadias is the absence of the distal urethra. 1: 200 - 400 newborns.

Malformations of the musculoskeletal system.

Congenital dislocation of the hip - from 3 to 8 per 1000 newborns. In girls it occurs 4-7 times more often. Bilateral hip dislocation occurs 3-4 times less often, while left-sided dislocation occurs 2 times more often than right-sided.

Etiology:

1) developmental delay at the embryonic stage;

2) a defect in the primary backfill. In 98 - 99% of children with this disease at birth, predislocation is noted - hip dysplasia. As the head of the femur grows in the first months, it shifts outwards and upwards, the cavity of the joint flattens, is replaced by connective tissue. The head outside the acetabulum is deformed, flattened, the acetabulum is flattened, the articular bag is stretched

Inspection should be carried out in the first days.

The most reliable symptoms:

a symptom of repositioning or dislocation, or a slipping symptom.

a symptom of abduction restriction, which is determined by abduction of the legs bent at the knee and hip joints.

Asymmetry of the skin folds of the thigh.

At 1-1.5 years, lameness is detected with unilateral dislocation and "duck gait" with bilateral dislocation, a shortening of the limb appears on the side of the lesion. Later lumbar lordosis comes to light. R - graphic!

Treatment: it is necessary to start from the first days. Up to 1 year, special tires, spacers are used to fix the lower limbs in a state of abduction. Such fixation for 3-4 months allows to achieve normal development of the femoral head and articular cavity, and hip dislocation is completely cured.

At the age of 1 - 3 years, treatment is used in a plaster cast - bed (M.V. Volkov). After 3 years - surgical reduction of dislocation.

Congenital clubfoot. On average 1:1000 newborns.

Supination (turning the feet inward).

Adduction (adduction of the forefoot).

Equinus (plantar flexion of the foot).

Accompanied by atrophy of the muscles of the lower leg, gait based on the rear of the foot.

Treatment - from the first days of life.

In the first 2 - 3 weeks - 6 - 7 times a day - therapeutic exercises and bandaging with a soft flannel bandage. Starting from the 20th - 30th day of life - stage plaster bandages up to 5 months, changing the plaster every 7 days. In children older than this age, the dressings are changed after 2 weeks, until the foot is in a normal position.

In 60 - 70% of children, the deformity can be eliminated by 6 - 7 months of age.

If conservative treatment fails - at 2.5 - 3 years - Zatsepin's operation on the tendon-ligamentous apparatus, followed by a plaster cast for 5 - 6 months.

Syndactyly - fusion between the fingers (skin or bone). Operation in 2 - 3 years.

Polydactyly is an increase in the number of fingers or toes.

Macrodactyly - an increase in the volume of the fingers.

Anomalies in the development of the genitourinary system usually arise as a result of a genetic mutation and can be expressed both in the underdevelopment of individual organs and in hyperdevelopment, up to doubling. Despite the fact that anomalies of this kind occur quite rarely in humans, they can lead to serious complications of a psychological and physiological nature, and in most cases require treatment.

Medical Center "Energo" - a clinic that provides services in the field of diagnosis and treatment of many health problems. Correct, accurate diagnosis of anomalies in the development of the genitourinary system allows you to establish their features and recommend the correct course of treatment.

Developmental anomalies: types and symptoms

Among the existing anomalies in the development of the genitourinary system, it is customary to single out anomalies of external and internal organs, which are most often diagnosed at an early age in male and female children.

So, among the anomalies, which are the underdevelopment of the genitourinary organs, hypospadias and epispadias are distinguished. Hypospadias in men is an underdevelopment of the penis and urethra, and therefore the urethra is abnormally displaced.

Depending on the type of displacement of the hole, there are different types of this disease:

capitate hypospadias: the opening of the urethra is located on the head, but lower than necessary for normal urination in a child, capitate hypospadias in children and adults is considered a mild degree of this anomaly and is quite easy to treat;
stem hypospadias (distal-stem form): the urethral opening is located at the bottom of the penis, which leads to its strong curvature;
scrotal hypospadias: the hole is located on the scrotum;
coronal hypospadias: the urethral opening is located on the coronal sulcus;
hypospadias without hypospadias: congenital shortening of the urethra with a normal position of the urethra.

In turn, epispadias is a very large urethra (total epispadias), which in girls is located in the area of the pubic joint (an anomaly can also occur in boys), which is why a person cannot control the process of urination.

Another type of developmental anomaly in boys is cryptorchidism, which is the failure of one or two testicles to descend into the scrotum. Most often, cryptorchidism in children is diagnosed on the right, less often on the left - that is, left-sided cryptorchidism.

In accordance with the location of the testicle, the following main classification of cryptorchidism has been developed, including such types of disease as:

inguinal cryptorchidism: an undescended testicle is located in the groin, above or below the inguinal ring;
abdominal cryptorchidism: the location of the testicle is difficult to establish without a special examination.

The very rare, but the most complex anomalies in the development of the reproductive system in humans include hermaphroditism, which is the simultaneous presence in a person of the primary genital organs of a man and a woman. In nature, in some animal species, hermaphroditism occurs as a normal feature, but in humans it is considered unnatural. Unlike other types of anomalies of sexual development, hermaphroditism may not be detected immediately, since its main signs in children sometimes appear only during puberty.

In addition to the genital, there are also anomalies of the urinary system, which mainly affect the kidneys and bladder.

Among the renal anomalies are:

doubling of the kidney (right or left), which may be complete or incomplete. Incomplete duplication suggests that on one or both sides there are two organs with one ureter. With complete doubling, the doubled kidneys are absolutely independent, have their own circulatory system, ureters, renal pelvis, etc .;
a horseshoe-shaped kidney, or an anomaly of fusion of the left and right kidneys between themselves from above or below, occurs in children due to deviations in the stage of fetal development, can be diagnosed in both a child and an adult, usually during ultrasound.

As one of the most common types of bladder anomalies, in turn, the bladder diverticulum is distinguished - a kind of additional "pocket" (cavity) from the muscle tissue of the bladder.

The manifestations of anomalies of the reproductive system are most often very clear, which makes it possible to diagnose them already in early childhood, usually almost immediately after birth. An exception is hermaphroditism, the signs of which may be a discrepancy between the appearance and gender status, which becomes apparent during puberty.

Problems with testicular descent can not be immediately established, since this process occurs gradually. In this case, the symptoms can be both visual (the scrotum on one side may be underdeveloped, and the testicle cannot be palpated), or pain - in the form of aching pain from the side of undescended.

Anomalies of the urination organs are also most often diagnosed by chance, usually when inflammatory processes occur, which can also be accompanied by pain and frequent urination.

Developmental anomalies: causes

It is generally accepted that most of the anomalies in the development of the genitourinary system occur due to a genetic mutation, the triggers of which have not yet been fully identified, however, experts usually refer to risk factors:

the negative impact of external factors on a woman during pregnancy (primarily radioactive radiation, if a woman lives in areas with high radioactivity);
malnutrition or malnutrition;
smoking and alcohol abuse during pregnancy;
frequent use of toxic cosmetics (hairspray, for example) during pregnancy.

Developmental anomalies: complications

Anomalies in the development of the genitourinary system require diagnosis and appropriate treatment, as they can lead to serious consequences, physiological and psychological. So, the curvature of the penis can become not only the cause of problems with urination, but also psychological problems in the intimate sphere, as well as acquired infertility.

Infertility in adult men can also develop against the background of cryptorchidism (in the case of a bilateral type of disease, even with treatment and surgery, infertility is almost always inevitable), as a consequence of inhibition of the secretory functions of the testicle and the cessation of sperm production. In addition, the longer cryptorchidism is not treated, the more dangerous it is, as it can cause testicular torsion.

Hermaphroditism, in turn, causes a number of physiological and psychological problems, as it can interfere with a person's self-determination.

Anomalies of the internal organs, kidneys and bladder most often do not cause such serious problems to a person, but they can increase the risk of developing inflammatory diseases, including chronic pyelonephritis and cystitis, as well as the occurrence of malignant neoplasms.

All of the above determines the need for timely diagnosis and treatment of anomalies in the development of the genitourinary system, which is recommended to be done at an early age, so you should contact a specialist as soon as possible. Most often, one or another type of external anomalies can be established by visual examination and palpation, but in some cases additional diagnostics are required.

In the Energo Medical Center, developmental anomalies are diagnosed using modern General Electric equipment - CT, MRI and ultrasound machines.

Diagnosis using CT, MRI and ultrasound aims not only to differentiate the anomaly, but also to establish its severity. So, if the testicle is not descended, ultrasound allows you to accurately determine its localization, and the use of contrast during the procedure makes it possible to determine the presence of a bladder diverticulum (in other cases, a diverticulum cannot be detected on ultrasound) or hypospadias.

Ultrasound and MRI are also used in the diagnosis of hermaphroditism, as they allow you to accurately assess deviations in the development of both types of genital organs. Additionally, with this type of anomaly, karyotyping and hormone tests are undertaken, which allow you to determine which sex was supposed genetically.

Treatment plan

Properly carried out qualitative diagnosis of anomalies in the development of the genitourinary system (hypospadias and other types) allows us to recommend the most effective treatment in St. Petersburg. In most cases, the treatment of this kind of anomalies involves surgical intervention of varying degrees of complexity and volume. In the case of a pathological curvature of the penis with hypospadias, surgery is recommended to be performed in the period from six months to one and a half years, as this avoids serious psychological consequences for a small patient (gender self-determination usually occurs in a child a little later). Surgical intervention for undescended testicles can be performed both in childhood and in adulthood.

Surgery for abnormal development of the kidneys and bladder (eg, removal of a bladder diverticulum) may be indicated only if conservative management of chronic conditions fails.

Hermaphroditism is a type of anomaly that is the most difficult to correct: most often, surgery is combined with hormonal therapy in accordance with the gender definition of the patient.

Developmental Anomalies: Prevention

Since this kind of anomaly is the result of a genetic mutation, it is quite difficult to predict its appearance. However, paying special attention to diet, food intake and the environment, as well as avoiding bad habits during pregnancy, can significantly reduce the risk of developing abnormalities. Otherwise, timely diagnostics, which can be obtained at the Energo medical center, helps to solve the problem.

Anomalies of the urinary system. Malformations of the urinary system in newborns Anomalies in the development of the genitourinary system

What causes malformations of the genitourinary system?

How are genitourinary malformations diagnosed?

What are the most common malformations of the genitourinary system?

What is renal agenesis?

What is hydronephrosis?

What is polycystic kidney disease?

What is bladder exstrophy and epispadias?

What is hypospadias?

What is indeterminate genitals or intersex?

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