| Barth综合征1例临床及基因突变分析 |
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| 引用本文： | 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): 454-456. DOI: 10.3969/j.issn.1000-3606.2019.06.013 |
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| 作者姓名： | 闫茹 诸澎伟 周坚 |
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| 作者单位： | 无锡市人民医院/儿童医院儿科实验室 江苏无锡 214000;无锡市人民医院/儿童医院儿急诊科 江苏无锡 214000 |
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| 基金项目： | 无锡市临床重点专科项目（No.2017EJZSZD） |
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| 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.406 C>T,p.Cys 136 Arg),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。
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| 关 键 词： | Barth综合征 心力衰竭 TAZ基因 |
Clinical manifestation and gene mutation analysis of Barth syndrome in a child |
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| YAN Ru,ZHU Pengwei,ZHOU Jian. Clinical manifestation and gene mutation analysis of Barth syndrome in a child[J]. The Journal of Clinical Pediatrics, 2019, 37(6): 454-456. DOI: 10.3969/j.issn.1000-3606.2019.06.013 |
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| Authors: | YAN Ru ZHU Pengwei ZHOU Jian |
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| Affiliation: | 1.Pediatric Laboratory, 2.Pediatric Emergency Department, Wuxi Children’s Hospital , Wuxi 214000, Jiangsu, China |
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| 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. |
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| Keywords: | Barth syndrome heart failure TAZ gene, |
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