Article
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.
Journal of nephrology - 1 Jan 2000
Vezzoli Giuseppe, Arcidiacono Teresa, Paloschi Vera, Terranegra Annalisa, Biasion Rita, Weber Giovanna, Mora Stefano, Syren Marie Louise, Coviello Domenico, Cusi Daniele, Bianchi Giuseppe, Soldati Laura
Abstract excerpt
Type 5 Bartter syndrome has been recently defined as a Bartter syndrome due to the most activating mutations of the calcium-sensing receptor (CaSR). It has been attributed to the inhibition exerted by CaSR activity on sodium transport in the thick ascending limb of the loop of Henle (TALH). Two monozygotic twin sisters (T1 and T2) with autosomal dominant hypocalcemia (ADH) due to a nonconservative activating CaSR...
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