Article
Phenotypic variability in Bartter syndrome type I.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2000
Bettinelli A, Ciarmatori S, Cesareo L, Tedeschi S, Ruffa G, Appiani A C, Rosini A, Grumieri G, Mercuri B, Sacco M, Leozappa G, Binda S, Cecconi M, Navone C, Curcio C, Syren M L, Casari G
Abstract excerpt
Limited phenotypic variability has been reported in patients with Bartter syndrome type I, with mutations in the Na-K-2Cl cotransporter gene (BSC). The diagnosis of this hereditary renal tubular disorder is usually made in the antenatal-neonatal period, due to the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis. Among nine children with...
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