22 April

Wilson's disease - diagnosis, treatment

Contents:

1. Forms Wilson's disease

2. Diagnosis of the disease

3. Treatment of Wilson's disease

Wilson's disease - a hereditary diseasewhich develops at constant copper intoxication human organism because of the violation of its transportation and storage.Usually the first symptoms of the disease manifest themselves in 10-13 years, more men are affected.

This disease is transmitted in an autosomal retsesivnomu type, that is, when both parents have the abnormal gene.Cause of the disease is a mutation in the gene that is responsible for protein synthesis transporting copper in the human body.The most dangerous mutations that cause complete destruction of the gene.They lead to the development of a very severe form of the disease.

In Wilson's disease the body is not able to maintain a balance of copper.Excess copper accumulates in the liver.Furthermore, it becomes impossible to bile excretion of copper, which leads to a further increase of its content in the body.Gradually, copper acc

umulates in the liver, not only, but also in other organs and systems.There is a chronic intoxication.

Forms Wilson's disease

There are several forms of the disease, each of which is characterized by the defeat of a particular organ or system of the human body.

1.Pechenochnaya form.It occurs in 50-80% of cases.Its characteristic symptom is jaundice - staining in jaundiced color of the mucous membranes and skin.Jaundice occurs due to an increase in blood bilirubin different fractions.First yellow mucous membranes (sclera eyes, the soft palate, mucous membrane under the tongue).Then yellowness apply to the skin, the skin of the upper and lower extremities.In the last turn yellow belly skin.In severe jaundice occurs severe intoxication.A characteristic feature of jaundice with Wilson's disease is a darkening of the urine and stool discoloration of the patient.

When significant liver damage in humans develops ascites - fluid accumulation in the abdominal cavity.Fluid pressure on the authorities, which are located in the abdomen.Therefore, the patient's stomach is greatly increased in size.Belly especially in patients with ascites is that by changing the position of the body, the stomach also changes position.

Patients with this form of the disease often have lower extremity edema.

Often, people suffering from this disease are bleeding.This is due to impaired blood clotting when the diseased liver.

Patients sometimes found women amenorrhea - absence of menstruation.Patient liver is not able to inactivate excess of the hormone estrogen, which causes amenorrhea.

2.Nevrologicheskaya form.One of the main symptoms of the disease Wilson's art form is a tremor of the hands and the head.Tremor - is involuntary, rhythmic, rapid movements.He is periodically or continuously.

In addition, patients often appear the following signs of illness:

  • grimacing - spontaneously appearing, changing the movement of the facial muscles;
  • dysarthria - speech disorder consisting in a strange pronunciation of sounds and words;
  • violation handwriting - appears illegible handwriting, writing letters of different sizes;
  • muscle rigidity - increased muscle tone, in which the more difficult to perform normal movement;
  • contracture of joints - limit extension movements of the joints;
  • psychosis - mental disorders characterized by inappropriate behavior, delusions, hallucinations;
  • depression.

In 50-60% of cases of liver and neurological forms of Wilson's disease occurs characteristic symptom - Kayser-Fleischer ring.It is a brown ring, which is located on the outer edge of the cornea.Form a ring as a result of accumulation of copper in the cornea.Sometimes it can be seen with the naked eye.

3.Redkie form.In 10% of cases of copper accumulation in the kidney leads to the destruction of cells.As a result, the patient develops glycosuria (glucose in the urine) or hematuria (the presence of red blood cells in the urine).

in 10-15% of patients develop intravascular hemolysis - the death of red blood cells in the blood vessels.Its consequence is anemia.

About 20% of people suffering from Wilson's disease are lesions of the skeletal system.The most common osteoporosis (decreased density and disturbance of bone structure), which is characterized by increased fragility of bones.

Diagnosis Diagnosis of the disease Wilson's disease consists of doctor's examination, palpation of the liver, and laboratory tests.

On examination, the doctor clarifies the patient's genetic predisposition to the disease, examines the eyes to identify the Kaiser-Fleischer rings.Liver increased patient usually has the consistency of a slightly compacted.

By laboratory tests in the diagnosis of Wilson's disease include:

  • complete blood count;
  • biochemical analysis of blood, in which the copper content is determined by blood;
  • urine test for the presence of copper;
  • liver biopsy - using a special needle take a piece of liver tissue, which is examined under a microscope and make the necessary analyzes;
  • genetic research - the use of DNA markers, which make it possible to diagnose with high accuracy.

There is also a method for diagnosing Wilson's disease with the use of labeled copper.It is administered to a patient and observing the movement and accumulation of trace elements.

Treatment of Wilson's disease

Treatment of Wilson's disease is the use of special medication and a diet.

Drugs prescribed to patients who have the ability to bind and remove copper from the human body.The most commonly used D-penicillamine, Trientine, zinc sulfate or zinc acetate.

With the development of neurological symptoms apply symptomatic treatment and bracing means.

To protect the liver using gepatoprotektory.In case of severe liver complications of therapy is the only way to change it.

great importance in the treatment of Wilson's disease have a special diet.Its main principle - the complete exclusion from the diet products that contain copper.These products include mutton, duck, chicken, shellfish, meats, nuts, beans, peppers, sorrel, liver, mushrooms and others.Patients should be included in the diet of easily digestible proteins, products with dietary fiber.Products must contain a reduced amount of fat and carbohydrates.

Attention!

This article is available exclusively in the educational purposes and is not research material or professional medical advice.

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