Wilson-Konovalov disease: what is it, symptoms, treatment, causes, signs. Acute intermittent form of porphyria. Treatment of Wilson-Konovalov syndrome

An interesting pallor, a mysterious glint of sad eyes, a mysterious appearance - such is the charming hero of the vampire saga "Twilight" performed by Robert Pattinson, the performer, according to which young female representatives all over the world die. So here they are, so what, bloodsuckers! And earlier, ghouls and ghouls seemed to people much less attractive. No wonder they were exterminated for many centuries for nothing. And not at all with aspen stakes and silver bullets, as the legends prescribe, but in the most usual way: they were hung or burned at the stake. In just one century, starting in 1520, more than 30,000 people recognized as werewolves were executed in France alone.

About blue and simple blood

Modern scientists believe that, as often happens, innocent people suffered in the hunt for ghouls. Although the persecutors still had a reason. No, those who were accused of vampirism did not drink other people's blood and did not turn into wild animals at night, but at the same time they looked - God forbid, and they led a suspicious lifestyle, to put it mildly. But first things first.

Doctors believe that people wrongly accused of vampirism actually suffered from a rare genetic disease blood, called "porphyria" (from the Greek "porphyros" - "purple"). It is believed that marriages between close relatives contributed to the spread of this disease. Porphyria was most common in the small villages of Transylvania (the birthplace of Count Dracula) about 1000 years ago. But there are rumors that the disease has not bypassed the royal families. For example, the historian Andrew Wilson, in his book The Victorians, mentions hereditary porphyria that ran rampant in the British royal family, and argues that it was this disease that robbed Queen Victoria's grandfather King George III of his mind. However, with the accession to the throne of Victoria, the crowned family got rid of this curse. Wilson believes that here the case could not have done without adultery, as a result of which the future English queen was born.

So what is this disease? Today, scientists know exactly what makes people look like vampires. With porphyria, the reproduction of heme, the non-protein part of hemoglobin, is disrupted, which in turn leads to excessive accumulation in the body toxic substances- porphyrins and their precursors, which have the ability to bind metals in the body, primarily iron and magnesium. An excess of porphyrins has a toxic effect on the entire body.

Vampire sickness

The connection between these two phenomena: the disease and ancient beliefs about people-bloodsuckers was first announced by Dr. Lee Illis from the UK. In 1963, he submitted a monograph "On Porphyria and the Etiology of Werewolves" to the Royal Society of Medicine. The work of the scientist contained a detailed comparative analysis surviving historical evidence that described vampires, and symptoms of porphyria. It turned out that clinical picture rare disease exactly copies the portrait of the most colorful ghoul.

With the advanced form of porphyria, the skin around the lips and gums in patients dries up, which causes the incisors to be exposed to the gums, giving the impression of a grin. In addition, a special substance porphyrin is deposited on the teeth themselves, which colors the smile (or rather, the grin) of a person in a reddish-brown color. The skin on the face and body of such people becomes thinner and bursts from exposure to sunlight, becoming covered with scars and ulcers. The disease also damages the cartilage, as well as the organs of which they are composed (primarily the nose and ears). Fingers become crooked. sunlight delivers the poor fellows the most severe torment, because it is under the influence of ultraviolet that the breakdown of hemoglobin begins. Therefore, during the day, people suffering from porphyria try not to appear on the street, and they show activity only at dusk, closer to night. Either from the torment experienced, or from forced seclusion, or from some internal processes occurring in the body, these people also suffer neuropsychiatric disorders and inappropriate, including aggressive behavior.

One can imagine the horror of those who, one evening or at night, by the light of the moon, met one of these "handsome" on a narrow path. Here you will believe not only in vampires and werewolves, but in anything!

Thought it was an allergy

Of course, frightening symptoms are characteristic only for the later stages of the disease, and even then not for all its types. Nevertheless, this disease, albeit not in such a pronounced form, exists to this day. The most common among all other forms, of which there are a great many, is acute intermittent porphyria (APP).

It is believed that this rare genetic pathology 1 person out of 200 thousand suffers (according to other sources, out of 100 thousand). Moreover, the factor of heredity is the most important, because if one of the parents is sick, then in 25% of cases the defective gene will pass to his child. There is reason to believe that porphyria may also be a consequence of incest. But in addition to genetics, the role of concomitant circumstances and lifestyle is also important. The fact is that almost 85% of carriers of the abnormal gene live their lives without knowing about their disease. And manifestations of photodermatosis on the skin are considered a simple allergy. But as soon as some kind of failure occurs in the body, an exacerbation can occur.

Most outbreaks are caused by:

● strict diets;

● stress;

● Medications (including phenobarbital, tetracyclines, bismuth-containing drugs, oral contraceptives and etc.);

● Contact with pesticides (for example, with agricultural fertilizers) or work in hazardous, including chemical industries;

● change hormonal profile in women associated with the onset of menstruation or pregnancy;

● infectious diseases (especially past viral hepatitis FROM;

● alcohol intake (80% of all patients with porphyria are not indifferent to alcohol).

People with porphyria usually end up in hospitals complaining of acute attacks of pain in the abdomen that do not have a clear localization, as well as nausea, vomiting, and constipation. All of these signs point to surgical pathology, so diagnosis and treatment may go the wrong way. With an incorrect diagnosis, and therefore treatment, acute porphyria in 60% ends tragically. BUT timely diagnosis and adequate therapy save almost all patients, returning them to a full life.

Wilson-Konovalov disease is a hereditary pathology that is characterized by impaired copper metabolism in the human body. At the same time, this element tends to accumulate in various organs, leading to disruption of their functioning. This pathology affects both men and women. But the representatives of the stronger sex suffer from it 4 times more often. The progression of the disease does not depend on the lifestyle and place of residence. AT medical literature this condition is also called hepatocerebral dystrophy or hepatolenticular degeneration.

Due to a violation of copper metabolism, the body cannot maintain its optimal balance, so the element accumulates in large quantities in the liver tissues. At the same time, the process of removing copper along with bile is disrupted, which also contributes to an increase in its amount. Gradually, an overabundance of the element in the body becomes the cause chronic intoxication. Copper begins to accumulate in other vital important organs disrupting their functioning.

Etiology

Wilson-Konovalov disease is transmitted only in one case - in an autosomal recessive manner. This refers to the fact that the disease is transmitted to the child if both parents have an abnormal gene.

The main reason for the progression of the pathology is the mutation of the gene responsible for protein synthesis, which, in turn, transports copper throughout the human body. In total, medicine knows about 80 variants of various mutations that can occur with this gene. But the most dangerous are those that lead to the complete destruction of the gene. In this case, the Wilson-Konovalov syndrome develops in severe form.

Symptoms

Symptoms of hepatocerebral dystrophy begin to appear even in young children, but the peak of their activity and severity is reached at the age of 12–16 years. Wilson-Konovalov's disease has several forms of development, which differ depending on which organ is observed. largest cluster copper.

Hepatic form of hepatocerebral dystrophy

It occurs most often - in 80% of cases. Pathology proceeds according to the type of chronic. As a result of its progression, dystrophy of the organ develops and occurs. The first symptom that indicates the occurrence of pathology is. Its appearance is due to the fact that a large amount of bilirubin is released into the blood. First, the sclera begin to turn yellow, a little later - skin covering. But skin itching is not observed. Urine darkens and feces become discolored.

If the pathology continues to progress, then edema develops and appears. The size of the abdomen can increase very quickly, and begins to put pressure on the diaphragm, making breathing difficult. Edema is noted on the feet and legs.

Bleeding is also common symptom Wilson-Konovalov disease. First, the gums bleed, but if the functioning of the liver is disturbed, bleeding from the esophagus and intestines is noted.

CNS damage in Wilson-Konovalov disease

As a rule, the symptoms in this form of pathology are combined with hepatic manifestations. Initially, it becomes difficult for the patient to perform small movements with his hands, as he develops a tremor. Speech becomes slurred. If you pay attention to the face of a patient with Wilson-Konovalov syndrome, then you can note small involuntary twitches various groups muscles. A person can grimace or make the same type of movement. In the later stages of the progression of the disease, extensor hypertonicity in the extremities is noted.

Changes in psychological status in hepatolenticular degeneration are observed in almost all patients. They have insomnia, they are closed, behave inappropriately, suffer from delusions and hallucinations. A characteristic symptom of Wilson's disease is also noted - a brown ring is noted along the outer circumference of the iris.

Rare forms of hepatocerebral dystrophy

About many patients observed. This state develops due to the fact that the metabolism in the body is significantly disturbed, and therefore calcium salts are washed out. Therefore, people diagnosed with hepatolenticular degeneration often experience unexpected fractures.

Due to deposition a large number copper in the glomeruli may interfere with blood filtration. Therefore, with hepatocerebral dystrophy, sugar appears in the urine, as well as red blood cells (urine has a slight reddish tint).

Wilson-Konovalov syndrome can proceed for 7 years without a single symptom, so it may not be immediately detected in children. But after the expiration latent period appear characteristic symptoms ailment. Hepatocerebral dystrophy requires special therapy.

Diagnostics

Diagnosis of hepatolenticular degeneration includes visual inspection, assessment of symptoms, palpation of the liver, and laboratory tests. During a personal examination, the doctor asks the patient if he has a hereditary predisposition to hepatolenticular degeneration, examines the eyes to identify a characteristic brown ring. On palpation, hepatomegaly is noted.

In the diagnosis of hepatolenticular degeneration, the following laboratory techniques are used:

  • DNA markers. This method diagnostics makes it possible to accurately establish the presence of this hereditary disease;
  • . Allows you to determine the level of copper in the blood;
  • liver biopsy;
  • for the presence of copper.

There is one more informative method diagnosing pathology in children and adults - the use of labeled copper. It is introduced into the body, and then they observe in which organ it will accumulate.

Treatment

Treatment of Wilson-Konovalov disease in children and adults is carried out according to three methods - non-drug, drug and surgical.

Non-drug treatment pathology is most often used to treat children when the syndrome is on early stage of its development. Its essence is that the patient is given an individual diet, which will be based on reducing the consumption of foods containing copper. Pork, seafood, wild poultry meat are excluded from the diet, Rye bread, beef, nuts, legumes, dried fruits. It is strictly forbidden to give to children plain water! You can only distilled. It is also recommended to completely abandon the use of salt and alcohol.

Drug treatment is carried out throughout the patient's life in order to prevent the deterioration of his condition. It is prescribed only by a qualified doctor based on the results of the tests, as well as taking into account the severity of the course of the disease and the characteristics of the patient's body. It is also worth noting that patients with Wilson-Konovalov disease are under the care of a doctor all their lives.

Surgical treatment is carried out if there is a need to eliminate the symptoms or complications that have arisen as the disease progresses. For example, intrahepatic bypass surgery, deep vein bypass surgery, liver transplantation, and so on are performed.

An inherited disease transmitted in an autosomal recessive manner. Occurs under conditions of mutations in the ATP7B gene, encoding the protein of the copper-transporting ATPase of the liver. characteristic feature Wilson's disease - the accumulation of copper in various organs and tissues, to a greater extent in the liver and basal ganglia. Wilson's disease can occur in the abdominal, rigid-arrhythmohyperkinetic, trembling or extrapyramidal-cortical form. Wilson's disease diagnosis includes ophthalmological examination, biochemical tests of urine and blood, MRI or CT of the brain. basis pathogenetic therapy are thiol preparations that can be taken for several years and even for life.

Rigid-arrhythmohyperkinetic form manifests in childhood. The initial manifestations are muscle rigidity, amimia, blurred speech, difficulty in performing small movements, and a moderate decrease in intelligence. This form of the disease is characterized by a progressive course, with episodes of exacerbation and remission.

trembling form occurs between the ages of 10 and 30. Tremor is the predominant symptom. In addition, bradykinesia, bradilalia, severe psychoorganic syndrome, epileptic seizures can be observed.

Extrapyramidal-cortical form occurs very rarely. Its beginning is similar to the beginning of any of the above forms. She is characterized epileptic seizures, extrapyramidal and pyramidal disorders and severe intellectual deficit.

Diagnostics

Ophthalmic examination using a slit lamp reveals a Kaiser-Fleischer ring. Biochemical research urine reveal an increased excretion of copper in the daily urine, as well as a decrease in the concentration of ceruloplasmin in the blood. With the help of imaging methods (CT and MRI of the brain), atrophy of the hemispheres is detected big brain and cerebellum, as well as the basal ganglia.

When diagnosing Wilson's disease, a neurologist needs to differentiate it from parkinsonism, hepatocerebral syndrome, Hellervorden-Spatz disease. The main differential diagnostic sign of these diseases is the absence of the Kaiser-Fleischer ring and copper metabolism disorders characteristic of Wilson's disease.

Treatment of Wilson's disease

basis pathogenetic treatment is the appointment of thiol drugs, in the first place - D-penicillamine or unitiol. The main advantage of cuprenil is its low toxicity and the possibility long-term use with absence side effects. It is prescribed at 0.15 g (1 capsule) per day (only after meals), then, within 2.5-3 months, the dose is increased to 6-10 capsules / day ( optimal dose). Treatment with D-penicillamine is carried out for years and even for life with short interruptions (for 2-3 weeks) in case of side effects (thrombocytopenia, leukopenia, exacerbations peptic ulcer stomach, etc.).

Unithiol is prescribed in case of intolerance ( poor tolerance) D-penicillamine. The duration of one course of treatment is 1 month, after which the treatment is suspended for 2.5-3 months. In most cases, there is an improvement in the general condition of the patient, as well as a regression of neurological symptoms (stiffness, hyperkinesis). In the case of dominance of hyperkinesias, the appointment of small courses of neuroleptics is recommended, with rigidity - levodopa, carbidopa, trihexyphenidyl.

When severe course Wilson's disease, with inefficiency conservative treatment abroad resort to liver transplantation. At positive outcome After the operation, the patient's condition improves, the exchange of copper in the body is restored. AT further treatment The patient is on immunosuppressive therapy. In Russia, today it is gradually being introduced into clinical practice biohemoperfusion method with isolated living cells of the spleen and liver (the so-called "auxiliary liver" apparatus). Non-drug treatment consists in the appointment of a diet (table number 5) in order to exclude foods rich in copper (coffee, chocolate, legumes, nuts, etc.).

Forecast and prevention

In the case of timely diagnosis of Wilson's disease and adequate copper-lowering therapy, normalization is possible. general condition patient and copper metabolism in the body. Permanent reception thiol preparations according to the scheme prescribed by a specialist doctor, allows you to maintain the professional and social activity of the patient.

To prevent recurrence of Wilson's disease, it is recommended to perform laboratory research blood and urine of the patient several times a year. It is necessary to control the following indicators: the concentration of copper, ceruloplasmin and zinc. In addition, it is recommended to conduct a biochemical blood test, general analysis blood, as well as regular consultations with a therapist and a neurologist.

Wilson-Konovalov disease is the cause of 15-20% of all liver diseases in children.

The disease is manifested by signs of liver damage (liver cirrhosis and liver failure often develop), neuropsychiatric disorders, a combination of these manifestations.

A pathognomonic symptom for Wilson-Konovalov disease is the detection of a yellow-brown ring along the periphery of the cornea (Kaiser-Fleischer ring).

The diagnosis of the disease is established on the basis of a physical examination, the results laboratory tests confirming the presence of a violation of copper metabolism in the body (decrease in the level of ceruloplasmin in the blood, an increase in the daily excretion of copper in the urine); data of imaging methods (ultrasound, CT and MRI), which reveal hepato- and splenomegaly, degeneration of the basal ganglia of the brain. Liver biopsy specimens show elevated levels of copper. The patient and his immediate family undergo genetic testing.

Treatment is aimed at limiting the entry of copper into the body and reducing its content by prescribing chelating drugs (D-penicillamine, trientine).

  • Classification of Wilson-Konovalov's disease

    In accordance with clinical symptoms There are three forms of the disease:

    • Wilson-Konovalov disease occurring with predominant lesion CNS.
    • Mixed form of Wilson-Konovalov's disease.
  • Epidemiology of Wilson-Konovalov disease

    AT last years there is a tendency to increase the number of diagnosed cases of Wilson-Konovalov disease. The prevalence of the disease is on average 30 cases per 1 million people.

    In the world, the disease is registered with a frequency of 1: 35-100 thousand newborns (there are already 10-30 million patients); carriage of the pathological gene is noted in 0.56% of cases. In the US, the incidence of Wilson's disease is 1:30 thousand of the population; carriers of the mutant gene (located on chromosome 13) are detected with a frequency of 1:90.

    A high incidence is noted in regions where there are closely related marriages (Iran, Yemen, Ireland), as well as in Japan and on the island of Sardinia. Thus, in Japan, Wilson-Konovalov's disease is diagnosed with a frequency of 1:30 thousand; for comparison, in Australia - 1:100 thousand of the population.

    Wilson-Konovalov disease occurs equally often in both men and women.

    The disease manifests itself at the age of 8-16 years, however neurological symptoms appear only by the age of 19-20. In children younger than 5 years of age, Wilson's disease may often be absent, although the disease is sometimes diagnosed both in patients under the age of 3 years and in people over 50.

    Without treatment, Wilson-Konovalov disease leads to lethal outcome(at about age 30) as a result of hepatic, kidney failure and hemorrhagic complications.

    The mortality rate among patients with emerging fulminant liver failure is 70%. The course of Wilson-Konovalov's disease with the development of fulminant liver failure more common in women than in men (4:1).

Neurological symptoms gradually increase: gait and coordination disorders, parkinsonism. In the future, the psyche changes: paranoid reactions, hysteria develop.

With Wilson-Konovalov's disease, the content of uric acid in the blood serum decreases.

  • Changes in biochemical analysis blood in liver damage.

    In a biochemical analysis of the blood of patients with cirrhosis of the liver, it is necessary to determine the following indicators: alanine aminotransferase (AlAT), aspartate aminotransferase (AST), alkaline phosphatase (AP), gamma-glutamyl transpeptidase (GGTP), bilirubin, albumin, potassium, sodium, creatinine.

    In patients with cirrhosis of the liver, total bilirubin increases, and the content of albumin decreases. aminotransferase activity in terminal stage liver cirrhosis is always reduced (no functioning hepatocytes and no enzymes).

  • Changes in the biochemical analysis of blood in kidney damage.

    If a patient with Wilson-Konovalov's disease has kidney damage, then his concentrations of urea and creatinine in the blood serum increase.

  • Determination of the content of ceruloplasmin in blood serum.
  • Transcranial ultrasound of the brain.

    During this study, it is possible to discover increased echogenicity areas of the basal ganglia of the brain, even in patients with asymptomatic Wilson-Konovalov disease.

  • ECG.

    ECG in patients with Wilson-Konovalov disease and heart damage can reveal signs of left or both ventricular hypertrophy, ST segment depression, T wave inversion, different kinds rhythm disturbances.

  • Electroencephalography.

    This study is performed in patients with severe CNS disorders who may have epileptic seizures.

  • X-ray studies.

    When conducting x-ray examination bone tissue and two-photon x-ray absorptiometry in patients with Wilson-Konovalov's disease, osteoporosis is detected.

  • x-ray CT scan brain.

    During this study, the following are visualized in the brain: dilated anterior horns of the lateral ventricles of the brain; diffuse atrophy of the cerebral cortex and cerebellum; foci of low density in the region of the basal ganglia.

  • X-ray computed tomography of the abdominal organs.

    This study allows you to obtain information about the size, shape, condition of the liver vessels, the density of the parenchyma of the organ. Visualization of intrahepatic vessels of the liver depends on the ratio of their density to the density of the liver parenchyma. So, normally, the vascular trunks of the liver are visualized in the form of oval and elongated formations, however, with a decrease in the density of the liver, the images of the vessels merge with the parenchyma.

  • Positron emission tomography of the brain.

    With the help of this study, it is possible to assess the state of glucose metabolism in the brain (in the cerebellum, striatum, basal ganglia, cortex and thalamus). In Wilson-Konovalov disease, this method makes it possible to detect a decrease in the activity of dopa-decarboxylase, which indicates disorders in the nigrostriatal dopaminergic system. These changes may disappear after appointment. specific therapy Wilson-Konovalov disease.


    The images show the basal ganglia of a patient with Wilson's disease before (left) and after (right) treatment with D-penicillamine.
    The first picture shows a decrease in glucose metabolism (in the region of the putamen and caudate nucleus on the right). The patient had extrapyramidal symptoms on opposite side body.
    After treatment, there is an improvement in the process of glucose utilization in the basal ganglia on the right.
  • Magnetic resonance imaging of the brain.

    This study is more informative in the diagnosis of Wilson-Konovalov's disease than CT of the brain. The images visualize low-density foci in the basal ganglia (caudate nucleus, putamen and globus pallidus), in the thalamus, in the region of the dentate nuclei and the cerebellar cortex. Lesions are usually bilateral, 3–15 mm in diameter. The ventricles of the brain are dilated.


    In the picture (A) of the brain of an 11-year-old girl with Wilson-Konovalov disease, foci of reduced density are visualized in the region of the pale ball (indicated by arrows).
    In the picture (B) of the same patient, an increase in the volume of the lesion (indicated by arrows) is visualized despite ongoing therapy with D-penicillamine. The patient also has signs of liver damage, ascites.
    In the picture (A) of the brain of a 12-year-old girl with Wilson-Konovalov's disease and dysarthria, foci of reduced density are visualized in the region of the putamen (indicated by arrows) and the caudate nucleus (pointer arrows).
    In the picture (B) of the brain of a 13-year-old girl with Wilson-Konovalov disease and dysarthria, bilateral symmetrical foci of low density are visualized in the area of ​​​​the putamen (indicated by black arrows), caudate nuclei (indicated by white arrows), and the pale ball (white arrows - pointers) .
    On the images (A and B) of the brain of a 13-year-old boy with Wilson-Konovalov disease, low-density foci are visualized in the area of ​​the globus pallidus (indicated by arrows) and the midbrain (pointer arrows).
  • Magnetic resonance imaging of the abdominal organs.

    Magnetic resonance imaging allows you to get an image parenchymal organs abdomen, large vessels, retroperitoneal space. Using this method, it is possible to diagnose diseases of the liver and other organs; determine the level of blockade of portal circulation and the severity of collateral blood flow; the condition of the efferent veins of the liver and the presence of ascites.


    X-ray of a 9-year-old girl with Wilson-Konovalov disease shows multiple low-density foci in the liver (before treatment). The arrow indicates fluid in the abdominal cavity (ascites).
    In the picture of the same 9-year-old girl with Wilson-Konovalov disease, taken 7 months after the start of treatment, a decrease in the number of low-density foci in the liver is visualized.
  • Liver biopsy.

    At morphological study liver biopsy revealed dystrophic changes cells, necrosis, mild inflammatory infiltration and fibrosis varying degrees expressiveness.



    Liver biopsies of a 9-year-old girl with Wilson's disease before (left) and 3 months (right) after starting treatment. On the background of therapy, there is a positive dynamics of intensity inflammatory process in the liver: a decrease in the severity is visualized degenerative changes in hepatocytes (pointer arrows) and necrosis (indicated by black arrows).
  • Determination of copper content in liver tissue.

    As diagnostic method determination of copper concentration in the liver tissue is used: an increase in the copper content of more than 250 μg / g (up to 3000 μg / g) of dry matter of the liver tissue confirms the diagnosis of Wilson-Konovalov's disease.

    An increased content of copper in the liver is also observed in chronic cholestatic liver diseases.

  • Oculist consultation.

    The accumulation of copper in the cornea (Kaiser-Fleischer ring) occurs after saturation of the liver with copper. It is a yellow-brown pigmentation on the periphery of the cornea. Sometimes pigmentation can be greenish tint. The Kaiser-Fleischer ring is always found in patients with neurological manifestations diseases; rarely in patients with symptoms of liver damage.

    Visual acuity in patients with the Kaiser-Fleischer ring does not decrease. This ring can be viewed with a slit lamp.

    The Kaiser-Fleischer ring becomes less pronounced or disappears when effective therapy is prescribed.

    • Criteria for the diagnosis of Wilson-Konovalov disease

      The criteria for diagnosing Wilson-Konovalov's disease are:

      • Discovery of the Kaiser-Fleischer ring.
      • Decreased serum ceruloplasmin (less than 20 mg/dl).
      • Decreased serum copper content (less than 12 mcg/dL).
      • Increased excretion of copper in the urine (more than 100 mcg / day).
      • Positive results of the penicillamine test.
      • Increased copper content in the liver tissue (more than 250 µg/g dry matter).
      • Absence of copper isotope incorporation into ceruloplasmin.

      In a patient with neuropsychiatric symptoms (or other manifestations suggestive of Wilson-Konovalov disease), the presence of a Kaiser-Fleischer ring and a decrease in serum ceruloplasmin (less than 20 mg/dL) would be in favor of Wilson-Konovalov disease.

      If the patient has symptoms chronic disease liver, but there is no Kaiser-Fleischer ring, then to establish the diagnosis of Wilson-Konovalov disease, it is enough to obtain evidence high content copper in the liver tissue (more than 250 mcg/g of dry matter) and a decrease in the content of ceruloplasmin in the blood serum.

    Treatment

    • Treatment Goals
      • Decreased intake of copper from food.
      • Decreased copper stores in the body.
    • Treatment Methods

        Non-drug measures are aimed at changing the patient's lifestyle: avoiding alcohol, dieting, avoiding the use of hepatotoxic drugs.

        Patients with Wilson-Konovalov disease should follow a diet that is aimed at reducing the intake of copper in the body.

        To this end, it is necessary to exclude foods high in copper, which include: lamb, pork, pheasant, duck, geese, squid, salmon, offal (liver, kidney, heart), seafood (oysters, shrimp, crabs, lobster, sea scallops, mussels), soy products, nuts, mushrooms, dried fruits (raisins, dates, prunes), some fruits (avocados), beans, peas, lentils, millet, barley, rye bread, fresh potatoes, milk chocolate, cocoa, mineral water.

        One serving of the consumed product should contain less than 0.1 mg of copper. A serving can be considered 3-4 ounces of meat, fish, game (1 ounce - 28.35 g); ½ cup vegetables; 1 piece of bread.

        • Copper content in various products
          Product
          Copper content (mg/g weight)
          Standard portion
          Copper content per serving
          Meat and fish products
          Fish
          0,61 120 0,07
          Turkey
          0,71 120 0,09
          Chick
          0,34 120 0,04
          Beef
          0,82 120 0,10
          pork liver
          141,14 120 16,94
          Eggs and dairy products
          Egg
          0,8 40 0,03
          Cheddar cheese
          0,44 120 0,05
          Soft cheese
          0,45 120 0,05
          Milk
          0,33 120 0,04
          Bakery products
          Bread from wheat flour
          1,07 30 0,03
          Cake
          0,60 30 0,02
          Seafood
          Scallops
          0,27 120 0,03
          shellfish
          6,08 120 0,73
          Crabs
          7,39 120 0,89
          Shrimps
          1,75 120 0,21
          oysters
          2,89 120 0,35
          mussels
          4,75 120 0,57
          Lobster
          36,60 120 4,39
          Sweets
          Syrup
          43,36 15 0,65
          lollipops
          1,18 15 0,02
          Vegetables
          Peas
          2,38 120 0,29
          common beans
          3,95 120 0,47
          Soya
          109 120 0,13
          Fruit
          Canned Apple juice
          0,20 120 0,02
          Avocado
          1,68 120 0,20
          Raisin
          1,68 30 0,05
          nuts
          Walnuts
          6,51 30 0,20
          Peanut butter
          8,53 30 0,26
          Soups
          Onion soup
          1,49 15 0,20
          Beef broth
          0,20 15 0,00
          Mushrooms
          Dried up
          2,12 50 0,11
          Canned
          2,30 50 0,12
          Beverages
          Tea
          0,025 120 0,03
          Coca Cola
          (bottled)
          0,001 356 0,00
          Coca Cola
          (in banks)
          0,004 356 0,001
          Sprite
          (bottled)
          0,004 356 0,001
          Sprite
          (in banks)
          0,001 356 0,00
          Orange juice
          (bottled)
          0,003 356 0,001

        Patients with Wilson's disease should drink demineralized or distilled water if drinking water contains significant amounts of copper (more than 100 µg/l). In a liter of water, which is intended for patients with Wilson-Konovalov's disease, there should be no more than 1 μg of copper.

    All processes that occur in our body are regulated by the nervous system. It coordinates the work of various organs and systems, and is also responsible for the regulation of their activities. An important part nervous system human is the peripheral nervous system, which consists of the cranial and spinal nerves, as well as parts of the autonomic nervous system. All of its components are not protected by bones or the blood-brain barrier, respectively, they are easily affected by mechanical stress or by the attack of toxins. Such an aggressive effect can cause diseases of the peripheral nervous system, the treatment and prevention of which will be the topic of this review.

    There are quite a few diseases of the peripheral nervous system. With such pathological conditions disruption occurs peripheral nerves or neuromuscular junction. These diseases can manifest themselves unpleasant symptoms and significantly degrade performance. Their therapy is supervised different specialists: neuropathologist, therapist, surgeon, etc.

    What are diseases of the peripheral nervous system?

    Specialists are aware of many ailments of the peripheral nervous system. They may differ in area of ​​localization and origin. In general, such diseases are represented by:

    Radiculitis (inflammation of the nerve roots);
    - funiculitis (inflammation of the nerve cords);
    - plexitis (inflammation of the plexuses);
    - mononeuritis (inflammation of the peripheral nerves);
    - polyneuritis (multiple inflammations of peripheral nerves);
    - multineuritis or multiple mononeuritis (with this pathology, several nerves are damaged in the periphery, often asymmetrically).

    How to treat diseases of the peripheral nervous system?

    The treatment of diseases of the peripheral nervous system consists of the medicinal part, non-drug effects and surgical interventions.

    Medicines for such ailments are often aimed at eliminating pain. Non-steroidal anti-inflammatory drugs - NSAIDs - help to cope with such symptoms. In some cases, doctors use more serious analgesics or blockades.

    To normalize the patient's vascular tone and improve blood circulation, use suitable vascular agents.

    To improve the conduct of nervous tissues take a course of vitamin therapy. The drugs of choice are most often drugs containing vitamins of group B.

    In addition, patients with diseases of the peripheral nerves need drugs that normalize muscle tone.
    Doctors also use other drugs, they are selected depending on the existing pathology.

    Non-drug therapy involves the use of physiotherapeutic methods of exposure. They are selected individually, focusing on the presence of a specific pathology, the severity of the process and comorbidities. Excellent effect gives reflexology, massages and exercise therapy classes. By the way, about exercise therapy for diseases of the nervous system of the central and peripheral, it was written on the pages of the site. Also, many patients are helped by methods alternative medicinemanual therapy, acupuncture, etc.

    If speak about surgical methods exposure, then in diseases of the peripheral nerves surgical treatment carried out only with prolonged and persistent neurological defects, as well as in the event that conservative therapy does not give positive effect. In addition, the operation can be carried out with acute conditions or if there is absolute readings.

    After normalization of the patient's condition with diseases of the peripheral nerves, he is shown Spa treatment.

    Preventive measures

    As you know, it is better to prevent a disease than to treat it. This is not cheap in many cases, but it is definitely better for well-being and health in general. this moment and for the future. If a we are talking about the likelihood of a disease of the peripheral nervous system - prevention of its occurrence will also be the best solution.

    To prevent the development of diseases of the peripheral nervous system, a person needs to change his lifestyle and be attentive to his health.

    To avoid the occurrence of such diseases, it is necessary to adhere to sufficient physical activity. An excellent choice would be daily gymnastics, swimming, walking, stretching, yoga, etc.

    Doctors say that in order to prevent diseases of the peripheral nervous system, you need to provide yourself with comfortable sleeping and workplace. It is better to rest on a special orthopedic mattress and a small pillow (preferably also orthopedic).

    There is evidence that diseases of the peripheral nervous system most often appear in people who lead sedentary image life. Therefore, with prolonged sitting and standing, you need to periodically change the position of the body and do a little gymnastics.

    Experts say that systematic thermal treatments(going to the sauna). They perfectly cleanse the body of salts, eliminate excess fluids and reduce swelling. Also, going to the sauna helps to speed up metabolic processes and improve blood circulation, which helps to increase the delivery of oxygen and various nutrients to tissues. But such procedures are possible only in the absence of contraindications.

    To prevent such diseases, you also need to eat a balanced diet, beware of various diseases, correctly and in a timely manner to treat any emerging ailments. Also, a variety of injuries require timely correction, even if they are not accompanied by loss of working capacity.

    If you suspect the development of diseases of the peripheral nervous system, you should not hesitate and seek medical help as soon as possible.

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