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肝豆状核变性又称Wison病,系P型ATPTB(P-ATPTB)基因缺陷引起铜代谢障碍的常染色体隐性遗传性疾病[1],临床表现复杂,症状多样,临床上极易误诊[2,3],现将我院近15年收治的肝豆状核变性患儿21例进行回顾性分析。1临床资料1.1一般资料21例肝豆状核变性均为本科住院患儿。其中男13例
Hepatolenticular degeneration, also known as Wison disease, Department of P-type ATPTB (P-ATPTB) gene defects caused by autosomal recessive copper metabolism disorders [1], the clinical manifestations of complex, diverse symptoms, clinically very easy to misdiagnosis [ 2,3], now my hospital admitted nearly 15 years of Wilson’s disease in children with retrospective analysis of 21 cases. 1 Clinical data 1.1 General Information 21 cases of Wilson’s disease are undergraduate hospitalization. 13 were male