Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor
Sarli, M.; Fradinger, E.; Zanchetta, J.é
Medicina 64(4): 337-339
2004
ISSN/ISBN: 0025-7680 PMID: 15338977 Document Number: 575921
The aim of this paper is to refer the unusual case of a 34 years old woman who consulted because of asymptomatic hypercalcemia, detected in a biochemical routine examination. The elevated values of serum calcium without blunted parathyroid hormone secretion suggested a parathyroid pathology. The concomitance of hypocalciuria with hypercalcemia and a calcium clearance/creatinine clearance ratio less than 0.01 reverted the diagnosis of familial hypocalciuric hypercalcemia, the first option. The absence of familial background led to the molecular study of the patient and her family. The latter confirmed the diagnosis of a de novo inactivating mutation of the calcium sensing receptor. Details on the molecular study and a brief review of this subject are included.