What disease is hepatolenticular degeneration?

summary

Hepatolenticular degeneration (HLD) is an autosomal recessive disorder caused by congenital abnormal copper metabolism. The patient's daily intake of copper from the intestine into the blood exceeds the normal level. After reaching the liver, due to abnormal lysosomal function of liver cells, impaired synthesis of ceruloplasmin and reduced excretion of copper from bile, copper is retained in the liver, which can cause liver fat and glycogen deposition, inflammation, fiber proliferation, cell necrosis and even cirrhosis. What disease is hepatolenticular degeneration? Next, I'd like to share my views with you.

What disease is hepatolenticular degeneration?

The etiology of Wilson's disease is located in 13q on the long arm of the 13th pair of chromosomes. The mutation results in the decrease of plasma ceruloplasmin content, which is an autosomal recessive inheritance. Further studies have found that the patient's liver lysosome defect limits the excretion of copper into bile, thus promoting the accumulation of excessive copper in the body and reducing the synthesis of ceruloplasmin in the liver, The regulation of plasma ceruloplasmin was weakened and the absorption of copper in gastrointestinal tract was increased.

According to the clinical manifestations of liver damage or extrapyramidal symptoms, combined with the results of blood copper, 24-hour urine copper, ceruloplasmin, corneal k-f ring, liver / head imaging and other auxiliary examinations, the diagnosis was confirmed; The diagnosis was based on the guideline for diagnosis and treatment of hepatolenticular degeneration issued by Chinese Medical Association in 2008.

Hemolysis caused by this disease is usually transient and self limited, often several years ahead of the performance of liver disease, hemolysis often occurs without k-f ring. Therefore, for hemolytic patients under 20 years old, the hemolysis caused by other reasons should be excluded from biochemical examination. The patient with hemolysis of Wilson's disease, whose blood Coombs test is negative, belongs to non spherical erythrocyte hemolysis.

matters needing attention

Avoid eating foods with high copper content, such as millet, buckwheat flour, brown rice, beans, nuts, potatoes, spinach, eggplant, pumpkin, mushrooms, fungi and algae, dried vegetables, dried fruits, mollusks, shellfish, snails, shrimps and crabs, liver and blood of animals, chocolate and cocoa. Some traditional Chinese medicine, such as keel, oyster, centipede, scorpion, etc. medication