发育医学电子杂志 Vol. 3 18-23
临床遗传
论著
儿童Gitelman 综合征SLC12A3 基因的 复合杂合突变研究
高春林 夏正坤 高远赋 樊忠民 徐敏 魏伟 周昱 莫桂玲
1. 南京军 区南京总医院 2. 广州金域医学检验中心
The study of SLC12A3 complicated heterozygotic mutation in children Gitelman syndrome
GAO Chun-lin, XIA Zheng-kun, GAO Yuan-fu, FAN Zhong-min, XU Min, WEI Wei, ZHOU Yu, #br#
MO Gui-ling
1 Jinling Hospital 2 Guangzhou Kingmed Center Of Clinical Laboratory
摘要 【摘要】 目的 探讨儿童Gitelman 综合征的临床表现、病理、遗传学异常等。方法 对儿童Gitelman综合征临床表现、肾活检明确病理、基因突变位点等进行检查。结果 临床表现低血钾、低镁血 症、碱中毒，高肾素血症、高醛固酮血症，基因检测发现存在SLC12A3 基因的复杂杂合突变, 即 c.1964G>A，p.(Arg655His) 联合8 号外显子缺失突变、c.2543A>T，p.(Asp848Val) 联合8 号外显子缺 失突变。结论 儿童Gitclman 综合征起病隐匿，复合杂合突变发生率高，基因诊断是确诊手段，儿 科医生需要提高认识，以防漏诊误诊。
关键词:
Gitelman 综合征')" href="#">Gitelman 综合征
儿童
SLC12A3 基因
低血钾
Abstract: 【Abstract】Objective To study the clinical, pathological and genetical manifestation of Gitelmansyndrome. Method The clinical data, renal biopsy pathology, genetic mutations of patients diagnosed with Gitelman syndrome were analyzed. Results All the patients showed hypopotassemia, hypomagnesemia, alkalipoisoning, hyperaldosteronemia，hyperreninemia. SLC12A3 complicated heterozygotic mutation was observed. Conclusions Gitelman syndrome in children is insidious and the incidence rate of SLC12A3 complicated heterozygotic mutation is high. Genetic tests can diagnose the disease. Pediatrician must recognize the manifestations to avoid misdiagnosis.
Key words:
Gitelman Syndrome ')" href="#">Gitelman Syndrome
Children
SLC12A3 gene
Hypopotassemia
收稿日期: 2014-08-11
出版日期: 2015-01-30
发布日期: 2019-07-20
期的出版日期: 2015-01-30
基金资助: 国家自然科学基金（81100592，81270800）
通讯作者:
高远赋https://baike.baidu.com/item/%E9%AB%98%E8%BF%9C%E8%B5%8B/11044789?fr=aladdin
E-mail: gaoyf9199@163.com
引用本文:
高春林 夏正坤 高远赋 樊忠民 徐敏 魏伟 周昱 莫桂玲. 儿童Gitelman 综合征SLC12A3 基因的 复合杂合突变研究 [J]. 发育医学电子杂志, 2015, 3(1): 18-23.
The study of SLC12A3 complicated heterozygotic mutation in children Gitelman syndrome . Journal of Developmental Medicine(Electronic Version), 2015, 3(1): 18-23.
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