论文部分内容阅读
儿童肝豆状核变性特殊表现28例误诊分析施荣富1李国荣2李艳芝3肝豆状核变性(HLD)是一种常染色体隐性遗传的铜代谢障碍疾病。一般以肝脏、豆状核等基底节受损最为常见。由于铜在各脏器组织都有不同程度的蓄积,临床上可出现复杂多样的症状,较易误诊。现对我们收...
Misdiagnosis analysis of 28 cases of hepatolenticular degeneration in children Shi Rongfu1 Li Guorong2 Li Yanzhi3 Hepatolenticular degeneration (HLD) is an autosomal recessive disease of copper metabolism disorder. General liver, basal ganglia and other damage to the most common basal ganglia. Because copper accumulates in varying degrees in various organs and tissues, there are complex and diverse symptoms that may be easily misdiagnosed. Now we receive ...