Familial hypocalciuric hypercalcemia

Abstract

Persistent primary hyperparathyroidism (PHPT) after an initial neck exploration requires a consideration of several factors including the adequacy of the initial neck exploration, as well as reviewing the underlying diagnosis. In the setting of a possible familial disorder, initial biochemical screening with a finding of a low urinary calcium to creatinine clearance ratio would suggest familial hypocalciuric hypercalcemia (FHH). Genetic testing of the CASR gene is available and is helpful in such clinical situations as there is an overlap in the biochemical appearance of PHPT and FHH.