| BRIEF REPORT |
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| Year : 2020 | Volume
: 3
| Issue : 1 | Page : 34-36 |
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An unusual cause for hypokalemic metabolic alkalosis with medullary nephrocalcinosis
Sudarsan Krishnasamy, Priyanka Khandelwal, Aditi Sinha, Pankaj Hari, Arvind Bagga
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
 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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