Article
Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey.
Clinical endocrinology - 1 Dec 2011
Raue Friedhelm, Pichl Josef, Dörr Helmuth-G, Schnabel Dirk, Heidemann Peter, Hammersen Gerhard, Jaursch-Hancke Cornelia, Santen Reinhard, Schöfl Christof, Wabitsch Martin, Haag Christine, Schulze Egbert, Frank-Raue Karin
Abstract excerpt
OBJECTIVE: Autosomal dominant hypocalcaemia or hypoparathyroidism is caused by activating mutations of the calcium-sensing receptor (CaSR). Treatment with calcium and vitamin D often worsens hypercalciuria and nephrocalcinosis, and renal impairment can result. Our aim was to describe the phenotypic variance of this rare disorder in a large series and to evaluate the outcome after long-term treatment. DESIGN:...
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