Table of Contents

HK J Paediatr (New Series)
Vol 22. No. 4, 2017

HK J Paediatr (New Series) 2017;22:221-224

Case Report

A Case Report of Familial Hypocalciuric Hypercalcaemia with a Heterozygous Mutation of the Calcium Sensing Receptor Gene in a Chinese Paediatric Patient

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.

Keyword : Calcium sensing receptor; CASR; Familial hypocalciuric hypercalcaemia


Abstract in Chinese

 
 

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