Genetic analysis in Bartter syndrome from India.
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.
Department of Pediatric Intensive Care Unit, B L Kapur Super Speciality Hospital, New Delhi, India, drsharma025@gmail.com.
Pradeep Kumar
PK
Sharma
Bhaskar
B
Saikia
Rachna
R
Sharma
Kumar
K
Ankur
Praveen
P
Khilnani
Vinay Kumar
VK
Aggarwal
Hae
H
Cheong
D001477:Bartter Syndrome / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male