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


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.

鑒別家族性低尿鈣性高鈣血症與更常見的原發性甲狀旁腺素亢進,具有臨床重要性,可避免不必要的檢查和治療。作者報告一例22月大無症狀的華裔病人,意外發現高鈣血症,並伴有家族性低尿鈣性高鈣血症的生化特徵。對 CASR基因的突變檢查確定該診斷。家族的基因檢查顯示,家族性低尿鈣性高鈣血症以常染色體顯性方式遺傳。

Keyword : Calcium sensing receptor; CASR; Familial hypocalciuric hypercalcaemia



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