假性甲状旁腺功能减退症的研究进展

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(PTH)抵抗所致。临床特点有低钙高磷血症、血清PTH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的失活性突变导致AHO畸形,而多发激素抵抗可能是由于组织特异性的GNAS1印记缺陷所致。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。

Progress of Research on Pseudohypoparathyroidism

Pseudohypoparathyroidism （PHP） is a rare inherited disease caused by parathyroid hormone resistance. This hormonal resistance leads to hypocalcaemia, hyperphosphataemia, elevated PTH levels, mostly the phenotype of Albright hereditary osteodystrophy {AHO） and multiple hormone resistance. Molecular genetics study has shown this disease is connected with defect of GNAS1 gene that encodes the a--subunit of the stimulatory G protein （Gsα）. Heterozygous inactivating mutations in the GNAS1 are found in patients with AHO, and multiple hormone resistance may result from tissue --specific imprinting defect of the GNASI gene. Adding calcium and active vitamin D is an effective treatment, and gene therapy is a research direction of future.