Yonsei Med J.  2006 Apr;47(2):255-258. 10.3349/ymj.2006.47.2.255.

A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene

Affiliations
  • 1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea. yschung@ajou.ac.kr
  • 2Department of Urology, Ajou University School of Medicine, Suwon, Korea.

Abstract

Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal dominant inheritance. A heterozygous mutation of E297K (GAG -> AAG, exon 4) of CaSR gene was found in 3 family members. To our knowledge, it is the first confirmed case of FBHH with CaSR gene mutation in Korea.

Keyword

Autosomal dominant; familial; hypocalciuric hypercalcemia; calcium-sensing receptor mutation
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