Novel inactivating mutation of the calcium‐sensing receptor in a young woman with mild hypercalcaemia. Issue 4 (April 2014)

• Record Type: Journal Article
• Authors: Kim, D. D. W.; Que, L.; Raizis, A. M.; Florkowski, C. M.
• Is Part Of: Internal medicine journal. Volume 44:Issue 4(2014)
• Page Start: 413
• Page End: 416
• Publication Date: 2014-04
• Subjects: Medicine -- Periodicals; 616
• DOI: 10.1111/imj.12383
• Languages: English
• ISSNs: 1444-0903

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>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.</p> </abstract>