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肝豆状核变性 (hepatolenticulardegeneration ,HPL)又名Wilson病 ,是一种常染色体隐性遗传病 ,主要由遗传性铜代谢障碍所致的肝硬化和以基底节为主的脑部变性病 ,临床表现为进行性加重的锥体外系症状、肝硬化、精神症状、肾功能损害及角膜色素环 (Kayser -Fleischerring) ,有
Hepatolenticular degeneration (HPL), also known as Wilson’s disease, is an autosomal recessive disorder that is mainly caused by hereditary disorders of copper metabolism and degenerative brain degeneration that predominates in the basal ganglia. Clinical Extrapyramidal symptoms manifested as progressive exacerbation, cirrhosis, psychiatric symptoms, impaired renal function, and Kayser-Fleischerring,