Familial Hypocalciuric Hypercalcemia: The Relation to Primary Parathyroid Hyperplasia

IN 1972, Foley et al. described familial benign hypercalcemia in a kindred with 12 members who had hypercalcemia without substantial morbidity.¹ We subsequently recognized and reported a similar syndrome in two large families.² Since no hypercalcemic members of these three families had hypercalciuria, we chose the term“familial hypocalciuric hypercalcemia”to describe this disorder. Although relatively common, familial hypocalciuric hypercalcemia is diagnosed infrequently. Examination of this disorder can provide insight into manifestations of chronic hypercalcemia. In addition, because of the unique disturbance in the regulation of calcium and magnesium concentrations in serum, it can provide insight into the biochemical and. . .