Crigler-Najjar综合征Ⅱ型1例报告并文献复习

曾静; 葛文松; 杨蕊旭; 范建高; 汪保灿

doi:10.3969/j.issn.1001-5256.2020.11.030

Crigler-Najjar综合征Ⅱ型1例报告并文献复习

DOI: 10.3969/j.issn.1001-5256.2020.11.030

上海交通大学医学院附属新华医院消化内科

基金项目:

国家重点研发计划“精准医疗”重点专项（2017YFC0908903）；院级种子研发型基金（XH1860）；

详细信息

中图分类号: R725.9
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出版历程
- 出版日期: 2020-11-20

Crigler-Najjar syndrome type Ⅱ:A case report and literature review

Department of Gastroenterology,Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine

Research funding:

摘要

摘要:
<正>1病例资料患儿女性,13岁,藏族。因"皮肤巩膜黄染13年"于2018年12月13日入住本院。患者出生后即出现皮肤巩膜黄染至今,黄染偶可于进食油腻食物后加深,近期劳累后黄染加重,入院前查肝功能:总胆红素343μmol/L,ALT 17 U/L,AST 37 U/L。病史特点:自幼皮肤巩膜黄染,劳累、进食油腻食物后黄染程度加重,无皮肤瘙痒,无乏力,无关节疼痛。多次查肝功能提示总胆红素升高,波动于200～300μmol/L,以非结合胆红素升高为主,酶学正常。父母非近亲结婚,患者兄弟姐妹5人,家族中母亲有类似黄疸病史,妹妹出生时有黄疸,但均未行特殊检查。
- Crigler-Najjar综合征 /
- UDP-葡萄糖醛酸转移酶 /
- 点突变
- Crigler-Najjar syndrome /
- UDP-glucuronosyltransferases /
- point mutation

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参考文献(22)

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