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假性甲状旁腺功能低下症是一种极少见的隐性遗传性疾病。目前国内尚未见报告,此病症具有甲状旁腺功能低下的临床表现,但并非由于甲状旁腺缺陷或由于甲状旁腺素分泌不足,而是由于肾小管及骨骼内的甲状旁腺激素敏感受体的障碍或缺乏,导致对甲状旁腺激素(PTH)无反应。其临床表现,体格矮小,园脸,伴有智力障碍及指趾短缩畸形。主要的生化异常为低血钙,高血磷症及血清甲状旁腺激素正常或轻度升高,血清硷性磷酸酶正常。用大剂量维生素D可以恢复肾小管对PTH的反应。而用PTH制剂治疗则无效。
Pseudo-hypoparathyroidism is a rare recessive hereditary disease. At present, no report has been reported in our country. This condition has the clinical manifestations of hypoparathyroidism, but not due to parathyroid defects or insufficient secretion of parathyroid hormone, but due to parathyroid hormone-sensitive receptors in the tubules and bones Or lack thereof, resulting in no response to parathyroid hormone (PTH). Its clinical manifestations, short stature, Park face, accompanied by mental retardation and toe shortening deformity. The main biochemical abnormalities for hypocalcemia, hyperphosphatemia and serum parathyroid hormone normal or mildly elevated, serum alkaline phosphatase normal. With large doses of vitamin D can restore renal tubular response to PTH. Treatment with PTH is ineffective.