Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-sensing Receptor Gene: the First Case Report in Korea

Overview

Journal J Korean Med Sci

Specialty General Medicine

Date 2010 Feb 2

PMID 20119591

Citations 2

Authors

Mi Yeon Kim

Alice Hyun Kyung Tan

Chang-Seok Ki

Ji In Lee

Hye Won Jang

Hyun Won Shin

Sun Wook Kim

Yong-Ki Min

Myung-Shik Lee

Moon-Kyu Lee

Kwang-Won Kim

Jae Hoon Chung

Affiliations

Soon will be listed here.

Abstract

Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing receptor (CaSR) gene are well-known causes of familial isolated hypoparathyroidism, also known as autosomal dominant hypocalcemia (ADH). Here we describe members of a Korean family with a heterozygous Pro221Leu mutation causing ADH. This case is the first report in Korea.

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