摘要
Gitelman综合征是最常见的遗传性肾小管疾病,多在青春期或成年后发病,发病率为1/40000〜1/4000,主要表现为短暂发作的乏力或手足搐搦,实验室检查可发现低血钾、低血镁、低尿钙以及代谢性碱中毒。Gitelman综合征可通过临床表现、实验室检查进行诊断,基因检测则是诊断的金标准。越来越多的研究显示,CLCNKB可能是SLC12A3以外的致病基因。对基因型-表型相关性的研究,完善了对Gitelman综合征遗传学病因的认识,对患者及亲属的合理防治和预后具有重要的意义。
With an estimated incidence of 1/40000 to 1/4000,Gitelman syndrome is the most common type of inherited renal tubular disease during adolescence or adulthood.Characteristic features of Gitelman syndrome include transient episodes of muscle cramps and fatigue,hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis.Detection of SLC12A3 mutations,in conjunct with clinical manifestations,may confirm the diagnosis.Recent research suggested that CLCNKB may also be a candidate gene for Gitelman syndrome.Research on genotype-phenotype correlation has provided more information on the genetic etiology o£Gitelman syndrome,which may facilitate the diagnosis and treatment for this syndrome and improve their prognosis.
作者
孔元梅
梁黎
王春林
Kong Yuanmei;Liang Li;Wang Chunlin(Department of Pediatrics,the First Affiliated Hospital of Zhejiang University,Hangzhou,Zhejiang 310003,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第2期205-208,共4页
Chinese Journal of Medical Genetics
