| Literature DB >> 25741940 |
Itai Gross, Yael Siedner-Weintraub, Ari Simckes, David Gillis.
Abstract
Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.Entities:
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Year: 2015 PMID: 25741940 DOI: 10.1515/jpem-2014-0188
Source DB: PubMed Journal: J Pediatr Endocrinol Metab ISSN: 0334-018X Impact factor: 1.634