128例儿童/青少年起病的甲状旁腺功能减退症临床分析

The clinical characteristics of 128 childhood-and adolescent-onset hypoparathyroidism in Peking Union Medical College Hospital： a retrospective analysis

目的 总结儿童/青少年起病的甲状旁腺功能减退症（甲旁减）患者临床特点,提高临床医师对该病的认识.方法 回顾性分析1975年3月至2015年11月于北京协和医院内分泌科门诊就诊的128例儿童/青少年起病的甲旁减患者临床资料.结果 本组患者主要临床表现为手足搐搦（108/121,89.3％）和癫痫样发作（84/127,66.1％）.113例患者进行了头颅CT筛查,其中101例存在颅内钙化（89.4％）,病程是预测颅内钙化发生的独立危险因素（OR=1.483,P=0.011）.使用钙剂联合维生素D或其衍生物可有效改善临床症状;治疗过程中在规律随访的124例患者中25例（25/124,20.2％）曾出现24h尿钙增高而需使用噻嗪类利尿剂,高钙尿症发生与同步血钙水平相关（P=0.016）.结论 儿童/青少年甲旁减主要表现为手足搐搦和癫痫样发作,颅内钙化发生率高,在钙剂和维生素D或其衍生物治疗过程中易出现高钙尿症,需密切监测、规律随访.

Objective To study the clinical characteristics of childhood-and adolescent-onset hypoparathyroidism.Methods The clinical data of 128 hypoparathyroidism patients with onset before the age of 18 years were collected and analyzed retrospectively.Results The predominant features of the hypoparathyroidism were carpopedal spasm （89.3%,108/121） and seizures （66.1%,84/127）.Intracranial calcification was identified in 89.4% （101/113） of the patients.Duration is an independent predictive factor （OR =1.483,P =0.011） for intracranial calcification.All the patients were treated with calcium and vitamin D or its metabolites.Hypercalciuria was associated with serum calcium （P =0.016）.Conclusions Carpopedal spasm and seizures were the main manifestations of childhood-and adolescentonset hypoparathyroidism.Calcium and vitamin D or its metabolites are effective.Monitoring the concentration of serum and urinary calcium is of highly importance for the prevention of hypercalciuria.