JWK Bao, KL Ng, TKC Tsui

Abstract

The differentiation of familial hypocalciuric hypercalcaemia from the more common primary hyperparathyroidism habours clinical significance, as unnecessary investigations and treatment could be avoided. We report a 22-month-old asymptomatic Chinese patient with an incidental finding of hypercalcaemia with biochemical features suggestive of familial hypocalciuric hypercalcaemia. The diagnosis was confirmed by mutation analysis of the CASR gene. Genetic analysis of the family showed the inheritance of familial hypocalciuric hypercalcaemia in an autosomal dominant manner.