title: Novel inactivating mutation of the calcium-sensing receptor in a young woman with mild hypercalcaemia.
abstract: A young woman with mild hypercalcaemia and an inappropriately normal serum parathyroid hormone had parathyroid scintigraphy suggestive of an active ectopic parathyroid tissue in the superior mediastinum. Urinary calcium to creatinine clearance ratio was low, and a subsequent genetic analysis confirmed a novel mutation (Q164K) in the calcium sensing receptor gene, consistent with familial hypocalciuric hypercalcaemia. We propose that this mutation accounts for her clinical and investigational findings, although a double pathology of Q164K and an ectopic parathyroid adenoma is also conceivable.
authors.affiliation: Department of Endocrinology and Diabetes, Waitemata District Health Board, Auckland, New Zealand.
authors.forename: D D W
authors.initials: DD
authors.lastname: Kim
authors.forename: L
authors.initials: L
authors.lastname: Que
authors.forename: A M
authors.initials: AM
authors.lastname: Raizis
authors.forename: C M
authors.initials: CM
authors.lastname: Florkowski
mesh_terms: D002118:Calcium / Q000097:blood; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006934:Hypercalcemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D010375:Pedigree; D044169:Receptors, Calcium-Sensing / Q000235:genetics* / Q000378:metabolism; D015899:Tomography, Emission-Computed, Single-Photon; D055815:Young Adult
chemical_list: D044169:Receptors, Calcium-Sensing; D004247:DNA; D002118:Calcium
keywords: calcium sensing receptor; familial hypocalciuric hypercalcaemia; hypercalcaemia; hyperparathyroidism