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CASE REPORT
Ahead of Print

Late-onset bartter's syndrome Type II with end-stage renal disease due to a novel mutation in KCNJ1 gene in an Indian adult male – A case report


 Department of Nephrology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana, India

Correspondence Address:
Sree Bhushan Raju D,
Department of Nephrology, First Floor, Near ARCU, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad - 500 082, Telangana
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.ijn_383_21

Mutations in ROMK1 potassium channel gene (KCNJ1) causes antenatal/neonatal Bartter's syndrome type II, which presents with renal salt wasting, hypokalemic metabolic alkalosis, secondary hyperaldosteronism, hypercalciuria, and nephrocalcinosis. We herein describe a case of late-onset Bartter's syndrome type II with progressive renal failure requiring renal replacement therapy secondary to a novel homozygous missense mutation in Exon 2 of KCNJ1 gene (c.500G>A). With this case, we aim to highlight the need for a high index of suspicion and the role of genetic evaluation to diagnose clinically unclassified cases of nephrocalcinosis with renal electrolyte abnormalities more so in late and atypical presentations.


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    -  Gaggar P
    -  Raju D SB
    -  Tej M R
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Indian Journal of Nephrology
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Online since 20th Sept '07