4种常见先天性高胆红素血症的临床特征及诊断思路

白洁; 郑素军; 段钟平

doi:10.3969/j.issn.1001-5256.2019.08.005

4种常见先天性高胆红素血症的临床特征及诊断思路

DOI: 10.3969/j.issn.1001-5256.2019.08.005

首都医科大学附属北京佑安医院疑难肝病及人工肝中心

基金项目:

北京市医院管理局消化内科学科协同发展中心项目(XXZ0503)；科技创新服务能力建设-高精尖学科建设项目(11920703)；

详细信息

中图分类号: R575
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出版历程
- 收稿日期: 2019-05-07
- 出版日期: 2019-08-20

Clinical features and diagnosis of four common types of congenital hyperbilirubinemia

Intractable Hepatic Diseases and Artificial Liver Treatment & Training Center, Beijing YouAn Hospital, Capital Medical University

Research funding:

摘要

摘要: 先天性高胆红素血症是临床上常见的遗传代谢性肝病,但由于其表现多样且不典型、临床重视程度不足,故易导致漏诊、误诊、延迟诊断。对Gilbert综合征、Crigler-Najjar综合征、Dubin-Johnson综合征和Rotor综合征等4种常见先天性高胆红素血症的临床特点、常见致病基因及其突变位点、诊断思路进行了总结,以供临床医师参考。
- 高胆红素血症,遗传性 /
- 疾病特征 /
- 诊断
Abstract: Congenital hyperbilirubinemia is an inherited metabolic liver disease commonly seen in clinical practice, and various atypical manifestations of this disease and a low degree of emphasis may lead to missed diagnosis, misdiagnosis, and delayed diagnosis. This article summarizes the clinical features, common pathogenic genes and their mutation sites, and diagnosis of four common types of congenital hyperbilirubinemia, i. e., Gilbert syndrome, Crigler-Najjar syndrome, Dubin-Johnson syndrome, and Rotor syndrome, in order to provide a reference for clinicians.
- hyperbilirubinemia, hereditary /
- disease attributes /
- diagnosis

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参考文献(28)

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