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

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 importa...

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Detalles Bibliográficos
Autores principales: Woo, Seong Ill, Song, Hyunju, Song, Kyung Eun, Kim, Dae Jung, Lee, Kwan Woo, Kim, Se Joong, Chung, Yoon-Sok
Formato: Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2006
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687637/
https://www.ncbi.nlm.nih.gov/pubmed/16642557
http://dx.doi.org/10.3349/ymj.2006.47.2.255
Descripción
Sumario: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.

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