Bartter's syndrome:clinical findings,genetic causes and therapeutic approach  

作　　者：Flavia Cristina Carvalho Mrad Sílvia Bouissou Morais Soares Luiz Alberto Wanderley de Menezes Silva Pedro Versiani dos Anjos Menezes Ana Cristina Simoes-e-Silva 

机构地区：[1]Interdisciplinary Laboratory of Medical Investigation,Faculty of Medicine,Federal University of Minas Gerais(UFMG),Av.Alfredo Balena,190,Room#281,Belo Horizonte,MG 30130-100,Brazil [2]Pediatric Nephrology Unit,Faculty of Medicine,UFMG,Belo Horizonte,Brazil

出　　处：《World Journal of Pediatrics》2021年第1期31-39,共9页世界儿科杂志（英文版）

摘　　要：Backgound Bartter's syndrome(BS)is a rare group of salt losing tubulopathies due to the impairment of transport mecha-nisms at the thick ascending limb of the Henle's loop.Data sources Literature reviews and original research articles were collected from database,including PubMed and Scopus.Results According to the time of onset and symptoms,BS can be classified into antenatal and classic BS.Molecular studies have identified different subtypes of BS.BS types Ⅰ,Ⅱ and Ⅲ are caused by mutations on genes encoding the luminal Na^(+)-K^(+)-2Cl^(-) co-transporter,the luminal K+ channel ROMK,and the basolateral chloride channel ClC-Kb(CLCNKB),respectively.Loss-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type Ⅳa.Simultaneous mutations of CLCNKB and CLCNKA cause BS type Ⅳb.BS type Ⅴ consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member D2.Severe gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of BS.Main clinical and biochemical alterations in BS include polyuria,dehydration,hypokalemia,hypochloremic metabolic alka-losis,hyperreninemia,high levels of prostaglandins,normal or low blood pressure,hypercalciuria and failure to thrive.Treatment focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria,including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 production.Conclusions Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure,nephrocal-cinosis and end-stage renal disease.

关 键 词：Bartter's syndrome HYPERCALCIURIA HYPOKALEMIA Metabolic alkalosis NEPHROCALCINOSIS 

分 类 号：R692.6[医药卫生—泌尿科学]