May
05
23:00
Diseases of internal organs

Hepatolenticular degeneration

hepatolenticular degeneration

hepatolenticular degeneration hepatolenticular degeneration (a disease Westphal - Wilson - Konovalov hepatolenticular degeneration hepatolenticular degeneration, and so on.) - A hereditary disease characterized by destructively processes in the brain, liver-type cirrhosisand metabolic disorders of copper.The most common between the ages of ten to thirty years

Causes

hepatolenticular degeneration mostly occurs in adolescence, which apparently belongs to the genetically determined fermentopathy transmitted genetically in an autosomal recessive manner.

In a study, the serum of patients have a reduced content of ceruloplasmin binding copper, also present significant increase in copper absorption in the intestine.Due to the increased deposition of copper occurs in the skin in the ganglia of the nervous system, at the periphery of corneas in the liver (leading to cirrhosis) and in other tissues.Isolation of copper in the urine increases at five - ten times

flow and symptoms

often hepatolenticular degeneration begins with symptoms of liver injury (diagnosed as liver cirrhosis or chronic hepatitis), then there is the accession of neurological disorders (amimia person chanting speech, tremorslimbs), and then develop a violation of thinking and gipertonus limb muscles.In other cases, the nervous system is affected before, and then to the patient revealed cirrhosis (SKD), which according to its clinical manifestations is virtually no different from cirrhosis of other etiologies.Hyperpigmentation of skin (from brown to dark - gray) also has a great diagnostic value.On the periphery of the cornea of ​​the patient present a distinctive greenish - brown bezel (ring Kaiser - Fleyshnera).The deposition of copper in the kidney leads to renal glucosuria, giperaminoatsidurii, found moderate splenomegaly.

diagnosis is confirmed by laboratory tests (blood serum test for the maintenance of ceruloplasmin and copper content in daily urine and blood) and liver biopsy

Treatment

Appointed specially formulated diet is very low in copper.Enough good results were observed after administration of D-penicillamine (rate of 20-40 mg / 1 kg daily, for a long time), increases the excretion of copper in the urine.

In conclusion I would like to add that in cases where hepatolenticular degeneration is not treated, then after disease progression (if any overt symptoms) for several years - in most cases death occurs.

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