Bartter syndrome is a group of inherited, salt-losing 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 KCNJ1(ROMK) gene 
[p(Leu220Phe), p(Thr191Pro)]. Second case had a phenotypic presentation of 
classical Bartter syndrome however, genetic analysis revealed only heterozygous 
novel mutation in SLC12A gene p(Ala232Thr). Bartter syndrome is a clinical 
diagnosis and genetic analysis is recommended for prognostication and genetic 
counseling.