Barth 综合征 1 例临床及基因突变分析

doi:10.3969/j.issn.1000-3606.2019.06.013

临床儿科杂志 ›› 2019, Vol. 37 ›› Issue (6): 454-.doi: 10.3969/j.issn.1000-3606.2019.06.013

Barth 综合征 1 例临床及基因突变分析

闫茹1,诸澎伟2,周坚1

无锡市人民医院/儿童医院1.儿科实验室，2.儿急诊科（江苏无锡　214000）

出版日期:2019-06-15 发布日期:2019-06-10
通讯作者: 诸澎伟　电子信箱：dingankana@sohu.com
基金资助:
无锡市临床重点专科项目（No.2017EJZSZD）

Clinical manifestation and gene mutation analysis of Barth syndrome in a child

YAN Ru1, ZHU Pengwei2, ZHOU Jian1

1.Pediatric Laboratory, 2.Pediatric Emergency Department, Wuxi Children’s Hospital , Wuxi 214000, Jiangsu, China

Online:2019-06-15 Published:2019-06-10

摘要/Abstract

摘要： 目的　探讨Barth综合征（BTHS）的临床表现及遗传学特征。方法　回顾分析1例BTHS患儿的临床资料。结果　患儿，男，10月龄，以左室增大，爆发性心肌炎，心力衰竭，肌无力，单核细胞增多，低血糖，乳酸性酸中毒，腹泻，面部异常等为主要表现。基因测序显示TAZ基因存在一个错义突变（c.406C＞T，p.Cys136Arg），突变来自患儿母亲。结论扩充了中国BTHS的基因突变谱及临床特征。

关键词: Barth综合征；　心力衰竭；　TAZ基因

Abstract: Objective　To explore the clinical manifestations and genetic characteristics of Barth syndrome (BTHS). Method　The clinical data of BTHS in a child were retrospectively analyzed. Results　A 10-month-old boy had the main manifestations of left ventricular enlargement, fulminant myocarditis, heart failure, muscle weakness, mononucleosis, hypoglycemia, lactic acidosis, diarrhea and facial abnormalities. Gene sequencing revealed a missense mutation in TAZ gene (c.406C>T, p.Cys136Arg), which came from his mother. Conclusion　The gene mutation spectrum and clinical characteristics of BTHS in China were expanded.

Key words: 　Barth syndrome;　heart failure;　TAZ gene

闫茹，诸澎伟，周坚. Barth 综合征 1 例临床及基因突变分析[J]. 临床儿科杂志, 2019, 37(6): 454-.

YAN Ru, ZHU Pengwei, ZHOU Jian. Clinical manifestation and gene mutation analysis of Barth syndrome in a child[J]. Journal of Clinical Pediatrics, 2019, 37(6): 454-.

Barth 综合征 1 例临床及基因突变分析

Clinical manifestation and gene mutation analysis of Barth syndrome in a child

PDF (PC)

赞

可视化

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 0

Metrics

本文评价

推荐阅读 0