SLC12A3基因突变致儿童Gitelman综合征4例分析  

An analysis of 4 cases with Gitelman syndrome caused by SLC12A3 gene mutation in children

作　　者：李荣敏[1] 王杰英[1] 雷淑琴[1] 常洁[1] 宋梅 齐瑞芳 朴玉蓉 桑艳梅[2] Li Rongmin;Wang Jieying;Lei Shuqin;Chang Jie;Song Mei;Qi Ruifang;Piao Yurong;Sang Yanmei(Baoding Key Laboratory of Clinical Research on Children′s Respiratory and Digestive Diseases,Department of Endocrinology,Baoding Children′s Hospital,Baoding 071000,Hebei Province,China;Department of Endocrinology,Genetics and Metabolism Center,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]保定市儿童医院内分泌科,保定市儿童呼吸消化疾病临床研究重点实验室,071000 [2]国家儿童医学中心,首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045

出　　处：《中华实用儿科临床杂志》2020年第22期1744-1746,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨儿童Gitelman综合征的临床特征及遗传学特征。方法选取2017年1月至2018年10月保定市儿童医院确诊的4例Gitelman综合征患儿,对其临床资料及致病基因携带情况进行分析。结果4例患儿中,男、女各2例,2例以身材矮小为主诉,2例以偶然发现低血钾而就诊。4例患儿均表现为便秘、矮身材、反复低血钾、低尿钠、低氯性代谢性碱中毒,尿钙/肌酐比值正常。卧立位肾素、血管紧张素Ⅱ水平增高,醛固酮正常。3例低血镁,1例血镁正常。4例患儿均携带SLC12A3基因复合杂合突变,c.1670-7G>A和c.1698C>A突变尚未见文献报道。结论便秘和身材矮小为儿童Gitelman综合征的常见临床表现。典型病例表现低血钾、低血镁、低尿钠、低氯性代谢性碱中毒等。少数患儿血镁可正常。Gitelman综合征患儿多携带SLC12A3复合杂合突变。Objective To study the clinical and genetic characteristics of Gitelman syndrome in children.Methods Four children diagnosed with Gitelman syndrome in the Baoding Children′s Hospital from January 2017 to October 2018 were enrolled,and their clinical data and pathogenic gene carrying status were analyzed.Results There were 2 males and 2 females in the enrolled patients.Two children complained of short stature and 2 children were diagnosed as hypokalemia by accident.All the 4 children showed constipation,short stature,repeated hypokalemia,hyponatremia,hypochloremia,normal urinary calcium/creatinine ratio,elevated renin and angiotensinⅡlevels in supine position,and normal aldosterone.Three children had hypomagnesemia and 1 child had a normal blood magnesium level.All of the 4 children had a compound heterozygous mutation of SLC12A3 gene.The mutations of c.1670-7G>A and c.1698C>A were not reported in the literature.Conclusions Constipation and short stature are common clinical manifestations of Gitelman syndrome in children.Typical cases show hypokalemia,hypomagnesemia,hyponatremia and hypochloremia,etc.The blood magnesium level can be normal in few children.Most children with Gitelman syndrome carry SLC12A3 compound heterozygous mutations.

关 键 词：GITELMAN综合征 SLC12A3基因 临床特征 基因突变 

分 类 号：R725.9[医药卫生—儿科]