Department of Paediatrics and Adolescent Medicine, United Christian Hospital, 130 Hip Wo Street, Kwun Tong, Kowloon, Hong Kong, China
JWK Bao (鮑詠芹) MBChB, MRCPCH
KL Ng (吳國樑) FRCP, FRCPCH
Department of Chemical Pathology, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, N.T., Hong Kong, China
TKC Tsui (徐淦芝) MRCP(UK), FRCPA, FHKCPath
Correspondence to: Dr. JWK Bao
Email: bwk184@ha.org.hk
Received April 27, 2016
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.
