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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

Authors
Woo, SI; Song, H; Song, KE; Kim, DJ; Lee, KW; Kim, SJ; Chung, YS
Citation
Yonsei medical journal, 47(2):255-258, 2006
Journal Title
Yonsei medical journal
ISSN
0513-57961976-2437
Abstract
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifesting 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.
MeSH terms
AdultDNA/metabolismDNA Restriction Enzymes/metabolismExonsFamily HealthFemaleGenes, DominantHeterozygoteHumansHypercalcemia/genetics*KoreaMaleMetabolism, Inborn Errors/genetics*Mutation*Parathyroid Hormone/analogs & derivativesParathyroid Hormone/geneticsParathyroid Hormone/metabolismPedigreeReceptors, Calcium-Sensing/genetics*Sequence Analysis, DNA
DOI
10.3349/ymj.2006.47.2.255
PMID
16642557
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
Journal Papers > School of Medicine / Graduate School of Medicine > Urology
AJOU Authors
김대중이관우김세중정윤석
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