基础医学与临床2017，Vol.37Issue(11)：1601-1606,6.
64例Gitelman综合征患者临床表现和基因突变分析
Clinical character and genetic mutation of 64 patients with Gitelman syndrome
王芬 1崔云英 1李春艳 1童安莉 1李玉秀1
作者信息
- 1. 中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室, 北京100730
- 折叠
摘要
Abstract
Objective To study the clinical and genetic profile of the patients with Gitelman syndrome ( GS ) . Methods We retrospectively analyzed the gene mutation and clinical character of 64 GS patients diagnosed in Pe-king Union Medical College Hospital from 2012 to 2016 .Results The age at diagnosis of these 64 patients ( 39 male,25 female) were (35±14) years.At admission, the serum potassium level of the patients was (2.86± 0.44) mmol/L, serum magnesium level was ( 0.62 ±0.14 ) mmol/L, 24-hour urine potassium was ( 82.27 ± 39.73)mmol/day, 24-hour urine calcium was (0.94±0.83)mmol/day and their average blood pressure was 110/69 mmHg.The gene mutation were divided into four groups including homozygous mutation ( n=5) , compound het-erozygous mutation(n=40), multiple mutations (n=9) and single heterozygous mutation (n=10) group.The compound heterozygous group had higher serum potassium concentration ( P<0.05 ) and the homozygous group had a relatively higher serum magnesium concentration but without significance .A total of 74 distinctly different mutation alleles were identified , of which 24 were new mutation alleles .p.Asp486Asn was a hotspot in our series which was found in 16 patients ( 25.0%) .Conclusions There exists great heterogeneity of gene mutation and clini-cal character in Gitelman syndrome .Patients with compound heterozygous have a relatively milder clinical character.p.Asp486Asn mutation is a hotspot in Chinese patients .关键词
Gitelman综合征/基因突变/临床表现Key words
Gitelman syndrome/gene mutation/clinical character分类
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王芬,崔云英,李春艳,童安莉,李玉秀..64例Gitelman综合征患者临床表现和基因突变分析[J].基础医学与临床,2017,37(11):1601-1606,6.
