title: Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
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.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Mi Yeon
authors.initials: MY
authors.lastname: Kim
authors.forename: Alice Hyun Kyung
authors.initials: AH
authors.lastname: Tan
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Ji In
authors.initials: JI
authors.lastname: Lee
authors.forename: Hye Won
authors.initials: HW
authors.lastname: Jang
authors.forename: Hyun Won
authors.initials: HW
authors.lastname: Shin
authors.forename: Sun Wook
authors.initials: SW
authors.lastname: Kim
authors.forename: Yong-Ki
authors.initials: YK
authors.lastname: Min
authors.forename: Myung-Shik
authors.initials: MS
authors.lastname: Lee
authors.forename: Moon-Kyu
authors.initials: MK
authors.lastname: Lee
authors.forename: Kwang-Won
authors.initials: KW
authors.lastname: Kim
authors.forename: Jae Hoon
authors.initials: JH
authors.lastname: Chung
mesh_terms: D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D002119:Calcium Carbonate / Q000627:therapeutic use; D005260:Female; D006579:Heterozygote; D006801:Humans; D006887:Hydroxycholecalciferols / Q000627:therapeutic use; D006996:Hypocalcemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D010281:Parathyroid Hormone / Q000032:analysis; D010375:Pedigree; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D050071:Bone Density Conservation Agents; D006887:Hydroxycholecalciferols; D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D002119:Calcium Carbonate; C008088:alfacalcidol