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Clinical and Experimental Nephrology
Published in: Clinical and Experimental Nephrology 4/2011

01-08-2011 | Case Report

A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels

Authors: Amita Sharma, Micheal A. Linshaw

Published in: Clinical and Experimental Nephrology | Issue 4/2011

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Abstract

Bartter syndrome (BS) is a rare renal tubular disorder presenting with hypokalemic metabolic alkalosis, which is classified into five types. KCNJ1 mutations usually cause the neonatal form of BS, type II BS (OMIM 241200). However, this report concerns a female patient with a novel, compound heterozygous KCNJ1 mutation that causes late-onset BS. The unique clinical findings of this case include persistently elevated 1,25(OH)2 vitamin D levels, possibly due to increase prostaglandin E2 levels, and medullary nephrocalcinosis. Treatment with COX-2 inhibitors resolved her hypercalciuria and improved her height and weight; renal function remains stable and there is no progression of nephrocalcinosis.
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Metadata
Title
A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)2 vitamin D levels
Authors
Amita Sharma
Micheal A. Linshaw
Publication date
01-08-2011
Publisher
Springer Japan
Published in
Clinical and Experimental Nephrology / Issue 4/2011
Print ISSN: 1342-1751
Electronic ISSN: 1437-7799
DOI
https://doi.org/10.1007/s10157-011-0431-3

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