Autosomal dominant hypocalcemia caused by an activating mutation of the calcium-sensing receptor gene: the first case report in Korea.
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.
Kim
Mi Yeon
MY
Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Tan
Alice Hyun Kyung
AH
Ki
Chang-Seok
CS
Lee
Ji In
JI
Jang
Hye Won
HW
Shin
Hyun Won
HW
Kim
Sun Wook
SW
Min
Yong-Ki
YK
Lee
Myung-Shik
MS
Lee
Moon-Kyu
MK
Kim
Kwang-Won
KW
Chung
Jae Hoon
JH
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
D050071:Bone Density Conservation Agents; D006887:Hydroxycholecalciferols; D010281:Parathyroid Hormone; D044169:Receptors, Calcium-Sensing; D002119:Calcium Carbonate; C008088:alfacalcidol