疑难病研究——儿童假性甲状旁腺功能减退症

目的　假性甲状旁腺功能减退 (PHP) ,是一种罕见的遗传性甲状旁腺疾病。其临床特点是手足搐搦 ,低血钙、高血磷、高甲状旁腺素血症 (PTH) ,周围靶组织对PTH生物活性不敏感 ,甲状旁腺可以增生肥大 ,常伴先天遗传性骨发育畸形。本病无特效治疗方法 ,终生补充钙及维生素D制剂是防止急性发作和阻止病情进一步进展的有效方法。并发甲状腺功能减低症 (甲低 )等内分泌腺功能减退时 ,则需终生服用甲状腺素替代治疗。

A difficult and complicated case study: Pseudohypoparathyroidism in childr

Pseudohypoparathyroidism is a rare genetic disease. Its features consist of biochemical disturbances - hypocalcemia, hyperphosphoremia and hyperparathyroidiemia and lack of response to the parathormone of target organs. The patients usually manifest tetany seizures and parathyroid gland hypertrophy accompanied by hereditary osteodystrophy. There is no specific therapy for this disorder. The treatment with calcium and active form of vitamin D is effective for preventing acute attacks and limiting the irreversible changes. Thyroxine substitutive therapy is needed when hypothyroidism occurs with pseudohypoparathyroidism.