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- Title
Hipercalcemia hipocalciúrica familiar: a veces no es lo que parece.
- Authors
Merino, M.; Vega, B.; Guijarro, G.; Navea, C.; Torán, C.; Civantos, S.
- Abstract
Familial hypocalciuric hypercalcemia (FHH) is an uncommon cause of hypercalcemia. Its prevalence is estimated to be 1:78,000 people. We describe a case with atypical presentation confirmed by genetic diagnosis. This is a case of a woman of 74 years of age with osteoporosis referred to the endocrinology service with suspected primary hyperparathyroidism (HPTP). She presented with a high level of parathyroid hormone (96.3 pg/ml, normal limits (NL): 15-65 pg/ml), with normal levels of calcium, phosphorus and magnesium, as well as a raised level of calciuria. She subsequently presented with normal levels of PTH, raised levels of calcium, combined with normal -high calciuria. The calcium/creatinine clearance ratio (CCCR, in mmol/l) varied between 0.011 and 0.02 mmol/l. A CCCR <0.01 is suggestive of FHH, and a CCCR >0.02, of HPTP. This ratio is within the range between 0.01 and 0.02 mmol/l, a reason which justifies requesting a genetic test in all patients with normal or high PTH, hypercalcemia and CCCR <0.02, requirements which our index case meets.
- Publication
Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (Spanish edition), 2015, Vol 7, Issue 1, p20
- ISSN
1889-836X
- Publication type
Article
- DOI
10.4321/s1889-836x2015000100005