假性甲状旁腺功能减退症的研究进展-梁凯.pdfVIP

()2010 10 31 10 415 ① ①＊ 梁　凯 　陈　丽 :假性甲状旁腺功能减退症是一种罕见的遗传性疾病, 由甲状旁腺激素(PT H )抵抗所 。 临床特点有低钙高磷血 症、血清PT H 升高, 部分可表现为Albright 遗传性骨营养不良症, 并伴有多发激素抵抗。分子遗传学研究表明本症与编 码Gs 蛋白α亚基(Gsα)的GNAS1 基因缺陷相关。Gsα的失活性突变导 A HO 畸形, 而多发激素抵抗可能是由于组织 特异性的GNA S1印记缺陷所 。补充钙剂和活性维生素D 是有效的治疗方法, 基因治疗是未来的研究方向。 :假性甲状旁腺功能减退症, Albright 遗传性骨营养不良症, GNA S1, Gs 蛋白α亚基, 基因治疗 :R582.2 　　:A 　　:1002-0772(20 10)10-0039-03 Progress of Research on Pseudohy poparathyroidism　LIA N GK ai, CHE N L i.Dep artment of Endocrinology of Qilu Hos- p ital of Shandong Uni ersity , J inan 250012, China Abstract:Pseudoh poparath roidism (P HP )is a rare inherited disease caused b parath roid hormone resistance.This hormonal resistance leads to h pocalcaemia, h perphosphataemia, elevated PT H levels, mostl the phenot pe of Albright hereditar osteod stroph (A HO)and multiple hormone resistance.Molecular genetics stud has show n this disease is connected w ith defect of GNAS1 gene that encodes theα-subunit of the stimulator G protein (Gsα).Heteroz gous inac- tivating mutations in the GNA S1 are found in patients w ith A HO, and multiple hormone resistance ma result from tissue -specific imprinting defect of the GNA S1 gene.Adding calcium and active vitamin D is an effective treatment, and gene therap is a research direction of future. Key Words:PH P, A HO, GNA S1, Gsα, gene therap 　　(pseudoh poparath roidism, 3　 P HP), PT H PT H cA MP , P HP Ⅰ PT H 。 Ⅱ, - (HP ), 、、, (PP HP )。P HP ⅠPT H , PT H , A C , cA MP。 。P H