Authors: Pradeep Kumar Sharma Bhaskar Saikia Rachna Sharma Kumar Ankur Praveen Khilnani Vinay Kumar Aggarwal Hae Cheong
Publish Date: 2014/04/04
Volume: 81, Issue: 10, Pages: 1095-1098
Abstract
Bartter syndrome is a group of inherited saltlosing tubulopathies presenting as hypokalemic metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism Around 150 cases have been reported in literature till now Mutations leading to salt losing tubulopathies are not routinely tested in Indian population The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia Mutational analysis revealed compound heterozygous mutations in KCNJ1ROMK gene pLeu220Phe pThr191Pro Second case had a phenotypic presentation of classical Bartter syndrome however genetic analysis revealed only heterozygous novel mutation in SLC12A gene pAla232Thr Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counselingPKS and BS Collected the data prepared critically revised and finally approved the manuscript RS and KA Collected the data prepared the manuscript PK and VKA Critically revised and finally approved the manuscript HC Did the genetic analysis and provided the interpretation of the same PK will act as guarantor for the paper
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