假性甲状旁腺功能减退症合并继发性低钾低镁血症1例机制析评

One case analysis of pseudohypoparathyroidism with hypokalemia and hypomagnesemia

假性甲状旁腺功能减退症是一种罕见的以甲状旁腺激素(PTH)抵抗为特点的常染色体显性或隐性遗传性疾病,疾病与位于20q13.3的G蛋白受体α亚单位编码基因GNAS突变有关,本文详细介绍了1例假性甲状旁腺功能减退合并继发性低镁、低钾血症患者的临床特点及治疗随访2年的情况,结果表明低镁、低钾血症可能继发于PTH抵抗、1,25(OH)_2D_3,作用不足。

Pseudohypoparathyroidism is a rare disease characterized by parathyroid hormone （PTH） resistance,which is caused by a GNAS gene mutation. We describe the clinical characters and treatment erects ot a case ot pseudohypoparathyroidism with hypokalemia and hypomagnesemia. The clinical data indicate that the hypokalemia and hypomagnesemia are secondary to PTH resistance and deficient function of 1,25 （OH）2D3.