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BRIEF REPORT
Year : 2020  |  Volume : 3  |  Issue : 1  |  Page : 34-36

An unusual cause for hypokalemic metabolic alkalosis with medullary nephrocalcinosis


Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Arvind Bagga
Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/AJPN.AJPN_12_20

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Bartter syndrome is a rare inherited tubulopathy characterized by hypokalemic metabolic alkalosis, polyuria, growth retardation, and often, medullary nephrocalcinosis. Many disorders present with similar clinical and metabolic features and pose diagnostic dilemma. We describe a young infant girl with growth retardation, hypokalemic metabolic alkalosis, and medullary nephrocalcinosis but without polyuria or urinary chloride wasting. Clinical exome sequencing revealed compound heterozygous variations in SLC26A3 (c.1514+5G > A and c.168del), the gene implicated in congenital chloride diarrhea. This case highlights the utility of genetic testing for definitive diagnosis and specific management in cases where Bartter syndrome is suspected.


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