A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report

作者全名："Zhou, Lan; Chen, Xiaohui; Xiong, Jiaojiao; Lei, Ling"

作者地址："[Zhou, Lan; Chen, Xiaohui; Xiong, Jiaojiao; Lei, Ling] Chongqing Hlth Ctr Women & Children, Dept Obstet & Gynecol, Chongqing, Peoples R China; [Zhou, Lan; Chen, Xiaohui; Xiong, Jiaojiao; Lei, Ling] Chongqing Med Univ, Women & Childrens Hosp, Dept Obstet & Gynecol, Chongqing, Peoples R China"

通信作者："Lei, L (通讯作者)，Chongqing Hlth Ctr Women & Children, Dept Obstet & Gynecol, Chongqing, Peoples R China.; Lei, L (通讯作者)，Chongqing Med Univ, Women & Childrens Hosp, Dept Obstet & Gynecol, Chongqing, Peoples R China."

来源：FRONTIERS IN PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000978538600001

JCR分区：Q2

影响因子：2.1

年份：2023

卷号：11

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：Bartter syndrome; CLCNKB; next-generation sequencing; mosaicism; hypokalemia

摘要："BackgroundType III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial cells to the interstitium. Type III BS is characterized by metabolic alkalosis, renal salt wasting, hyperreninemia, and hyperaldosteronism with normal blood pressure.Case presentationWe reported the case of a 3-day-old girl whose initial symptom we diagnosed as jaundice, but we accidentally found metabolic alkalosis. She showed recurrent metabolic alkalosis, hypokalemia, and hypochloremia and also had hyperreninemia and hyperaldosteronism with normal blood pressure. Both oral potassium supplements and potassium infusion therapy were unable to entirely restore the electrolyte imbalance. She was suspected of Bartter syndrome and genetic tests were performed on her and her parents. Next-generation sequencing identified CLCNKB gene mutation including heterozygous mutation c.1257delC (p.M421Cfs*58) and a low-level mutation c.595G > T (p.E199*); both mutations were also verified in the parents.ConclusionWe reported the case of a classic Bartter syndrome in a newborn with a heterozygous frameshift mutation and a mosaic non-sense mutation in the CLCNKB gene."

基金机构：　

基金资助正文：