A novel homozygous mutation of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia  

作　　者：Nan Li Xiang Li Xiao-Lin Ni Xiu-Ying Li Wei-Bo Xia Guo-Qing Yang Yu Pei 

机构地区：[1]Department of Endocrinology,The First Medical Center,Chinese PLA General Hospital,Beijing 100853,China [2]Department of Endocrinology,The Second Medical Center,Chinese PLA General Hospital,Beijing 100853,China [3]Department of Endocrinology,Key Laboratory of Endocrinology,Ministry of Health,Peking Union Medical College Hospital,Chinese Academy of Medical Science,Beijing 100730,China [4]Department of Endocrinology,Liangxiang Teaching Hospital,Capital Medical University,Beijing 102401,China

出　　处：《Chinese Medical Journal》2021年第15期1869-1871,共3页中华医学杂志（英文版）

摘　　要：To the Editor:Familial hypocalciuric hypercalcemia(FHH)comprises a group of rare hereditary disorders of calcium homeostasis,characterized by lifelong hypercalcemia,usually asymptomatic,and inappropriately low urinary calcium excretion.FHH is genetically heterogeneous.The majority of cases are FHH1,due to inactivating mutations in the calcium-sensing receptor(CASR)gene on chromosome 3.FHH2 and FHH3 are due to inactivating mutations in the G protein subunit alpha 11 gene and adaptor related protein complex 2 subunit sigma 1 gene separately.

关 键 词：HOMEOSTASIS URINARY EXCRETION 

分 类 号：R589.5[医药卫生—内分泌]