A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene.
10.3349/ymj.2006.47.2.255
- Author:
Seong Ill WOO
1
;
Hyunju SONG
;
Kyung Eun SONG
;
Dae Jung KIM
;
Kwan Woo LEE
;
Se Joong KIM
;
Yoon Sok CHUNG
Author Information
1. Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea. yschung@ajou.ac.kr
- Publication Type:Case Report
- Keywords:
Autosomal dominant;
familial;
hypocalciuric hypercalcemia;
calcium-sensing receptor mutation
- MeSH:
Sequence Analysis, DNA;
Receptors, Calcium-Sensing/*genetics;
Pedigree;
Parathyroid Hormone/analogs & derivatives/genetics/metabolism;
*Mutation;
Metabolism, Inborn Errors/*genetics;
Male;
Korea;
Hypercalcemia/*genetics;
Humans;
Heterozygote;
Genes, Dominant;
Female;
Family Health;
Exons;
DNA Restriction Enzymes/metabolism;
DNA/metabolism;
Adult
- From:Yonsei Medical Journal
2006;47(2):255-258
- CountryRepublic of Korea
- Language:English
-
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.
