Hepatolenticular degeneration

Hepatolenticular degeneration, hepatolenticular degeneration, hepatocerebral degeneration, familial juvenile hepatitis with degeneration of the striatum, Westphalian disease-Wilson-Konovalov disease, etc.) is a common disease characterized by a disruption of copper metabolism, liver damage of the cirrhosis type and destructive processes in the brain. It occurs most often in adolescence, and, apparently, refers to genetically conditioned fermentopathies, hereditarily transmitted by an autosomal recessive type. In the serum of patients, the content of ceruloplasmin binding copper is reduced, and absorption of copper in the intestine is significantly enhanced. As a consequence, there is an increased deposition of copper in the liver (which leads to the development of cirrhosis), ganglia of the nervous system (causing their toxic damage), in the skin, along the periphery of the cornea and in other tissues. The excretion of copper with urine increases 5-10 times.

Symptoms, course. Often, the disease begins with signs of liver damage and is diagnosed as chronic hepatitis, cirrhosis of the liver, then neurological disorders join: tremor of extremities, chant speech, face amyemia, later develop hypertonicity of the muscles of the limbs, disturbances in thinking. In other cases, the damage to the nervous system develops earlier, and then the patients are diagnosed with cirrhosis of the liver, usually a large-nodal one, in its clinical manifestations basically not different from cirrhosis of another etiology. The deposition of copper in the kidneys leads to hyperaminoaciduria, and in some cases - renal glucosuria. Diagnostic value has hyperpigmentation of the skin - from dark gray to brown and the presence of a characteristic greenish-brown rim on the periphery of the cornea - the so-called Kaiser-Fleischner rings. As a rule, a moderate splenomegaly is found. The diagnosis is confirmed by puncture liver biopsy and laboratory tests: the study of the content of ceruloplasmin in the blood serum, the concentration of copper in the blood and daily urine. In untreated cases, the disease progresses, and a few years after the manifestation of obvious symptoms ends with the death of patients.

Treatment. A special diet with a low copper content is recommended. Good results were noted from the appointment of D-penicillamine (20-40 mg / kg daily for a long time), which increases the excretion of copper in the urine.