Genetic diseases

Wilson's disease

Wilson's disease

Wilson Wilson's disease (Wilson's disease) - a disease that has a hereditary disease, which affects the liver and central nervous system as a result of violations of metabolic processes in the body of copper.Bezel yellow-brown, formed by Wilson's disease in the iris indicates serious pathological changes.

Wilson's disease is a fairly rare genetic abnormality in which copper can accelerate the work of the vital enzymes influence on the blood and the endocrine glands, as well as to participate in the formation of hemoglobin.Therefore, in the body and there are some abnormalities associated with the accumulation of copper in liver cells, and the CNS.

Wilson's disease causes

Wilson's disease is inherited autosomal recessive type, and the disease occurs in the same ratio of men and women.In recent years began to increase cases of diagnosis of this disease.Basically, Wilson disease prevalence in different countries is 1: 30,000, with a frequency of one per cent of heterozygous carri

er.Marriages between close relatives increases the percentage of disease, which is particularly observed in the regions where they are welcome.

Wilson's disease is caused by a genetic defect of the gene, which is localized on the thirteenth chromosome is responsible for the intracellular transport of copper, which is the basis of the causes of this disease.Initially

gene expression should occur in the placenta, kidney and liver, but as a result of various pathological disorders of bile excretion is reduced to copper, so it is gradually accumulated in hepatocytes.

from food into the body of copper (2.5 mg), first, absorbed in the intestine, then the liver, then binds to ceruloplasmin (a protein containing copper and present in plasma) travels in the blood serum falls within certain organs andexcreted in the bile.However, Wilson's disease, urinary component copper 0.2-0.4 mg per day, when the rate of - 2 mg leads to exceed the accumulation of metal in the body.This reduction is due to the excretion of abnormal gene gepatotserebralnoy dystrophy.As a result of breach of the delivery of copper to the special Golgi apparatus, which includes it in ceruloplasmin, and subsequent selection with lysosomes in the bile, copper starts to deposit in the blood-forming organs such as cornea, liver, kidneys and brain.When depositing in the liver occurs secondary inhibition of the synthesis of ceruloplasmin.As a result, hepatocytes undergo necrosis and develop chronic hepatitis, hemolytic anemia, cirrhosis and liver cancer in the latter.

Wilson's disease symptoms

clinical picture of Wilson's disease is represented by several forms of manifestation: hepatic, neurological, psychiatric, cardiovascular, musculoskeletal, ventricular-intestinal and dermatological.

At the beginning of liver disease develop fatty degeneration of the non-specific nature, necrotic changes of hepatocytes in a small amount, periportal fibrosis.Then, the high activity is progressing chronic hepatitis, in which there is jaundice, increased level aminotransferoz and hypergammaglobulinemia.

If Wilson's disease continues to develop, the patients diagnosed with cirrhosis of the liver, in which the expressed hypertension in the portal vessels and the lack of liver cells.

rare manifestation of Wilson's disease-Kovnovalova considered fulminant liver failure.It is often detected in adolescence and young adulthood.The signs, which allow it to differentiate viral hepatitis fulminant type is small, but the increased activity of enzymes, where the predominant activity of AST, have low levels of alkaline phosphatase, and albumin, but the highest amount of total bilirubin and copper, as well as hemoglobinuria.

frequent symptom of Wilson's disease is a hemolytic anemia, which is formed by a huge release of copper from the liver.Sometimes there is damage to the liver by abdominal Kerara form, which leads to early liver failure.With a constant presence in the blood beyond the statutory rate of copper and its deposition in other organs, affects the kidneys, red blood cells, brain, bones and corneas.

Neurologic manifestations of Wilson's disease are characterized by extrapyramidal, cerebellar and psevdobulbornymi disorders and seizures.

first, rigid-aritmogiperkineticheskaya or an early form of Wilson's disease, manifested as general stiffness, spasmodic hyperkinesis that have Athetoid and torsion-spastic character.Muscles located on the trunk, extremities, as well as those who are involved in the process of speaking and swallowing a stiff covers.In these patients, there is dysarthria, dysphagia and amimia.People with this form of Wilson's disease are constrained in his movements, and their gait resembles bouncing.Sometimes patients are frozen in an awkward position.This is due to paroxysmal muscle contractions that often causes total immobility.

Regidno-arigmogiperkineticheskaya disease Wilson generally begins at age seven and runs to fifteen.Disorders of the visceral nature occur somewhat earlier - with 3-5 years of symptomatic liver disease, which are marked before the start of neurological symptoms.

Another flexor-extensor form of Wilson's disease is manifested by tremor of the hands or the whole body.Increased jitter is usually associated with anxiety or purposeful actions.Some patients with mild tremor was observed only on one side.All patients exposed to muscle dystonia.During shaking regidnoy-form notes decreased intelligence, labored speech and gipomimiya.

extrapyramidal pathology is characterized by mono and hemiparesis, which is diagnosed when gepatotserebralnoy dystrophy extrapyramidal-cortical form.Her Unlike other manifestations of Wilson's disease is a large lesion of the cerebral cortex.Clinic such a violation is shown in epileptic seizures, especially the character of Jackson, and severe lesions intelligence.But, despite this, there are clinical cases in which neurological symptoms are not observed, indicating that the positive flow of Wilson's disease.

mental disorders when gepatotserebralnoy dystrophy is characterized by emotional psychosis, behavioral changes and cognitive activity.

intravascular hemolysis is observed in 15% of patients with Wilson's disease, which runs from temporary manifestation and self disappearances.But it is preceded by liver disease for many years.Simultaneously with hemolysis occurs sometimes acute liver failure.In this case, the free copper is greatly affects erythrocytes and hemoglobin.

Kidney disease Wilson's place in the form of partial or complete Fanconi syndrome, nephrolithiasis, and reduced glomerular filtration.And this is the cause of peripheral edema, proteinuria and microscopic hematuria.It is very often found in the urine of valine, threonine, phenylalanine and tyrosine.

the deposition of copper in the lens, a ring Kayser-Fleischer appears cataracts.

From the CCC notes arrhythmia and cardiomyopathy.When the affected muscles and skeleton are diagnosed arthralgia, osteomalacia, arthropathy and osteoporosis.

Gastrointestinal manifestations of Wilson's disease is characterized cholelithiasis, pancreatitis, and dermatological - purpura vessels, increased pigmentation of the skin and the blue hole at the base of the nail.

Wilson's disease treatment

main treatment of Wilson's disease is associated with excretion of excess amounts of copper, to further prevent its toxic effects on the whole body.

To start number 5 is assigned to a diet rich in proteins, but with limited copper content in products.

main treatment Wilson's disease is directed to the use of drugs that will bind copper, and withdraw it from the body.To start

appoint British antilyuizit - 1.25-2.5 mg / kg, intramuscular injection twice a day, the course of 20 days and a break, too, in 20 days.Or the drug is administered by a different pattern: 200-300 mg some months twice a day until you reach a positive effect.Unitol 5% - a / m 5-10 ml in a day, the course - 25-30 injections, repeated every three months.D-penicillamine administered from 0.3 to 4 g per day, which will depend on the severity of Wilson's disease and excretion of copper in the urine.This drug improves the excretion of toxic copper from the body.Dosage is set annually and changed after the control liver biopsy.

Early treatment of Wilson's disease, 2-3 weeks, neurological symptoms can worsen and functional state of the liver to become worse, and then replaced by an improvement in a few months or even weeks.

sometimes completely disappears chronic hepatitis and cirrhosis of the liver, after intensive therapy with this drug, as determined by tests on a biopsy.

indications for liver transplantation are fulminant liver failure and its progression in chronic hepatitis and cirrhosis of the liver, if drug therapy is ineffective.

consequence of Wilson's disease, as a rule, is the disability of patients.However, when appropriate therapy at early stages of the disease, positive results can be achieved.But later stage - this is the absolute complications in which the treatment of Wilson's disease does not have significant influence.As a result, death occurs at a young age from cirrhosis or liver failure fulminant type.

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