儿童肝豆状核变性的临床特征及诊治进展

王朝霞; 张春艳

儿童肝豆状核变性的临床特征及诊治进展

吉林大学第一医院小儿消化科

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中图分类号: R742.4
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出版历程
- 收稿日期: 2011-05-15
- 出版日期: 2011-07-20

Clinical features and progress in diagnosis and treatment of hepatolenticular degeneration in children

摘要

摘要: 肝豆状核变性是一种常染色体隐性遗传的铜代谢疾病,其临床表现极为复杂,易造成误诊;也是少数几种可用药物治愈的遗传代谢病之一,预后取决于治疗的早晚和规范。儿童肝豆状核变性与成人不尽相同,因此提高儿科医生对肝豆状核变性的诊治水平,直接关系患者的预后。
- 肝豆状核变性
Abstract: Hepatolenticular degeneration (HLD) is an autosomal recessive disorder of copper transport that may have variable combinations of clinical manifestations and lead to misdiagnose.It is one of the few genetic metabolic diseases which can be recovered with medicine.Early diagnosis and standard treatment will greatly improve the prognosis.HLD features are not exactly the same as in adults, thereby improving the pediatrician's medical treatment level has been directly related to the prognosis of the patients.
- hepatoleuticular degeneration

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参考文献(8)

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