title: Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
abstract: We present four cases with clinical and biochemical hypocalcaemia and evidence supportive of hypoparathyroidism. One case had been previously ascribed a diagnosis of idiopathic hypoparathyroidism. Following the detection of relative hypercalciuria, all cases were found to have autosomal dominant hypocalcaemia with hypercalciuria and mutations of the calcium-sensing receptor gene, of which two were novel. Increased awareness of this condition and access to genotyping enables prompt accurate diagnosis and cascade screening of first-degree relatives.
authors: Department of Endocrinology, Christchurch Hospital, Christchurch, New Zealand. belinda.schouten@gmail.com
authors: Belinda J
authors: BJ
authors: Schouten
authors: Anthony M
authors: AM
authors: Raizis
authors: Steven G
authors: SG
authors: Soule
authors: David R
authors: DR
authors: Cole
authors: Patrick A
authors: PA
authors: Frengley
authors: Peter M
authors: PM
authors: George
authors: Christopher M
authors: CM
authors: Florkowski
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D053565:Hypercalciuria / Q000150:complications*; D006996:Hypocalcemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D007037:Hypothyroidism / Q000150:complications; D008297:Male; D009154:Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D055815:Young Adult
chemical_list: D044169:Receptors, Calcium-Sensing