4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析

姜涛; 欧阳文献; 谭艳芳; 唐莲; 张慧; 李双杰

doi:10.3969/j.issn.1001-5256.2021.08.029

4例先天性胆汁酸合成障碍2型患儿的临床特征及遗传学分析

DOI: 10.3969/j.issn.1001-5256.2021.08.029

湖南省儿童医院肝病中心，长沙 410007

利益冲突声明：本研究不存在研究者、伦理委员会成员、受试者监护人以及与公开研究成果有关的利益冲突。

作者贡献声明：姜涛负责课题设计，资料分析，撰写论文；谭艳芳、唐莲、张慧参与收集数据，修改论文；李双杰、欧阳文献负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
李双杰，lesjie62@vip.sina.com

中图分类号: R575
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出版历程
- 收稿日期: 2021-01-18
- 录用日期: 2021-02-15
- 出版日期: 2021-08-20

Clinical features and genetic analysis of congenital bile acid synthesis disorder type 2 in four children

Department of Hepatopathy Center, Hunan Children's Hospital, Changsha 410007, China

摘要

- 先天性胆汁酸合成障碍2型 /
- 体征和症状 /
- 基因检测
- Congenital Bile Acid Synthesis Disorder Type 2 /
- Signs and Symptoms /
- Genetic Testing

HTML全文

表 1 4例CBAS2患儿入院后初次肝功能指标检查结果

病例	TBil (μmol/L)	DBil (μmol/L)	总蛋白 (g/L)	Alb (g/L)	ALT (U/L)	AST (U/L)	TBA (μmol/L)	GGT (U/L)
例1	137.0	71.2	53.8	32.9	175.6	197.8	2.4	27.0
例2	238.7	224.8	53.4	36.3	623.4	437.8	9.5	40.7
例3	302.0	184.8	62.0	42.6	396.5	681.4	8.9	42.0
例4	230.8	179.8	58.1	43.8	362.4	413.8	5.5	62.0
正常值	3.4~17.0	0~6	55~80	35~55	0~40	0~40	0~9.67	0~50

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表 2 4例CBAS2患儿基因变异情况

病例	染色体位置	核苷酸改变	氨基酸改变	合子状态	来源	文献报道	突变类型
例1	chr7:137761334	c.70G＞C	p.G24R	杂合	父	无	错义
例1	chr7:137761359	c.93+2T＞C	—	杂合	母	无	剪切位点
例2	chr7:137792268	c.797G＞A	p.R266Q	纯合	父母	有	错义
例3	chr7:137791341	c.580-13T＞A	—	杂合	母	有	剪切位点
例3	chr7:137792268	c.797G＞A	p.R266Q	杂合	父	有	错义
例4	chr7:137790177	c.579+2_579+4delinsA	—	杂合	母	无	剪切位点
例4	chr7:137792268	c.797G＞A	p.R266Q	杂合	新发	有	错义
注：“—”表示无。

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