Citrin缺陷病的诊治

王建设; 朱启镕

Citrin缺陷病的诊治

复旦大学附属儿科医院

详细信息

中图分类号: R725.8
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出版历程
- 收稿日期: 2011-03-29
- 出版日期: 2011-07-20

The diagnosis and management of Citrin deficiency

摘要

摘要: Citrin缺陷病是包括我国在内的东亚地区多发的常染色体隐性遗传病。目前已明确至少有两种主要表型:Citrin缺陷引起的婴儿肝内胆汁淤积症和瓜氨酸血症Ⅱ型。早期诊断、定期随访和适当的治疗有望改善预后,避免严重后果发生。
- Citrin缺陷病 /
- 胆汁淤积,胆内 /
- 瓜氨酸血症
Abstract: Citrin defi ciency is an autosomal recessive disorder mainly seen in East Asia, including China.There are two disease entities attributed to the deficiency of citrin:neonatal intrahepatic cholestasis caused by Citrin deficiency (NICCD) and adult-onset Type Ⅱ citrullinemia (CTLN2) .Early diagnosis and proper management may improve the prognosis.
- Citrin defi ciency /
- cholestasis /
- intrahepatic

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参考文献(16)

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