Late symptoms of hepatolenticular degeneration?

summary

Hepatolenticular degeneration (HLD), also known as Wilson's disease, is an autosomal recessive disorder of copper metabolism. Wilson first reported and described that it is a kind of liver cirrhosis caused by inherited copper metabolism disorder and brain degeneration mainly in basal ganglia. The clinical manifestations were progressive extravertebral symptoms, cirrhosis, psychiatric symptoms, renal function damage and corneal pigment ring (k-f ring). So let's share the late symptoms of Wilson's disease?.

Late symptoms of hepatolenticular degeneration?

First, normal adults absorb 2-4 mg of copper from food every day, and the copper ions entering the blood are first loosely bound with albumin, and then 90% - 98% of them are transported to the liver for transportation α 2 globulin was firmly bound to form ceruloplasmin;

Second, only about 5% of them are loosely bound to amino acids and peptides such as albumin or histidine, most of which are excreted through the biliary system, and a few are excreted in urine.

Third, the disease is an autosomal recessive disorder of copper metabolism, but its mechanism has not been fully elucidated up to now. It is generally accepted that the theory of reduced biliary excretion, ceruloplasmin synthesis disorder, lysosomal defect and metallothionein gene or regulatory gene abnormality.

matters needing attention

The determination of serum ceruloplasmin, serum copper, urine copper and the copper content of skin fibroblasts in vitro is helpful to find homozygotes and heterozygotes before symptoms of hepatolenticular degeneration, and to give early treatment. Heterozygotes should not marry heterozygotes to avoid homozygotes in their offspring. If homozygote is found in prenatal examination, pregnancy should be terminated.