Familial Hypocalciuric Hypercalcemia
- 2 October 1980
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 303 (14) , 810-811
- https://doi.org/10.1056/nejm198010023031409
Abstract
Familial hypocalciuric hypercalcemia is a diagnosis that is usually missed. In this disorder, unlike typical primary hyperparathyroidism, chronic hypercalcemia generally begins before the age of 10 years and is not accompanied by hypercalciuria or renal damage. The hypercalcemia shows autosomal-dominant transmission with nearly 100 per cent penetrance at all ages.1 , 2 The range of serum calcium values is identical to that in typical primary hyperparathyroidism, but the clinical course is generally mild, and this feature led Foley et al. to describe the syndrome as "familial benign hypercalcemia." 3 In hypercalcemic members of the families under discussion, the average rate of urinary excretion . . .Keywords
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