5例假性甲状旁腺功能减退症诊治体会

Analysis of Diagnosis and Treatment in 5 Cases of Pseudohypoparathyroidisim

目的:探讨假性甲状旁腺功能减退症的诊断治疗。方法:对5例假性甲状旁腺功能减退症,从病因、发病机理、临床表现、诊断、治疗等方面进行分析。结果:假性甲状旁腺功能减退症为一种遗传基因缺陷病,有家庭发病倾向。手足抽搐,癫痫样发作,低钙高磷血症,脑内多发钙化及AHO躯体畸形是假性甲状旁腺功能减退症的主要特点。结论:对反复手足抽搐,AHO躯体畸形者应查血钙、磷、甲状旁腺激素(PTH)及脑CT。用钙剂、维生素D或AT-10能控制假性甲状旁腺功能减退症的症状,且需长期应用。

To study the diagnosis and treatment of pseudohypoparathyroidisim. Methods: To report five patients with pseudohypoparathyroidisim and study the cause, mechanism, clinical manifestation, diagnosis and treatment, and so on. Results: Pseudohypoparathyroidisim is agenetic defect of gene, having a family incline. Tetany, epilepsy, hypocalcaemia, hyperphosphatemia, cranial calcification and albright' s hereditary osteodystropliy (AHO) deformity of body are the major characters. Conclusion: Patients who have repeated tetany, AHO deformity of body should be detected calcium; phosphorus, PTH and brain CT. calcium, VitD or AT - 10 can control symptoms of pseudohypoparathyroidisim and need long- term usage.