15例假性甲状旁腺功能减退症的临床分析

目的分析假性甲状旁腺功能减退症(PHP)的临床特点、诊断及治疗。方法回顾性分析解放军总医院1990年1月~2011年7月入院的15例PHP患者(男/女∶9/6)的临床资料。结果 15例患者诊时病程长短不一(3 d~21年),均有手足抽搐、乏力等症状,并多有癫痫发作病史。实验室检查常提示低血钙、高血磷、甲状旁腺激素升高等。9例头颅CT提示多发颅内钙化灶,4例合并甲状腺功能异常。本病需终生补充钙及维生素D制剂以防止急性发作和病情进展。结论 PHP为罕见遗传病,首诊误诊率高,对反复手足抽搐,药物控制不良的癫痈样发作及儿童先天性发育缺陷的患者应尽早行血钙、血磷、血甲状旁腺激素及头颅CT等检查。长期治疗包括钙剂和维生素D或其衍生物,患者若同时合并甲状腺功能异常或性腺功能减退,应予以相应治疗。

Clinical analysis of 15 cases of pseudohypoparathyroidism

Objective To analyze the clinical characteristics,diagnosis and treatment of pseudohypoparathyroidism(PHP).Methods The clinical data of 15 patients with pseudaohypoparathyrodism(including 9 male and 6 female patients) admitted in our hospital between January,1990 and July,2011 were reviewed.Results The disease course of the patients ranged from 3 days to 21 years,and such symptoms of tetany and fatigue were found in all the patients.Most of the patients had a history of seizures.Laboratory tests suggested commonly low serum calcium,hyperphosphatemia,and parathyroid hormone(PTH) elevation.Head CT indicated multiple intracranial calcifications in 9 cases,and abnormal thyroid function was found in 4 cases.No specific treatment was available for this disease,and life-long calcium and vitamin D supplementation was advised to prevent acute attacks and disease progression.Conclusion PHP is a rare genetic disease with a high rate of misdiagnosis in initial diagnosis.For repeated tetany and epileptic attacks and children with congenital developmental defects,examinations of blood calcium,phosphorus,and PTH and brain CT should be ordered as soon as possible.Long-term calcium and vitamin D supplementation is suggested for the treatment,and the presence of concomitant thyroid dysfunction or hypogonadism necessitates corresponding treatments.