Ontology highlight
ABSTRACT:
SUBMITTER: Vergine G
PROVIDER: S-EPMC5841104 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Case reports in pediatrics 20180221
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the <i>SLC12A1</i> gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hyp ...[more]