·个案报告·

    假性甲状旁腺功能减退症一例报道并文献复习

    王斐，全会标，方团育，陈开宁

    作者单位：570311 海南省海口市，海南省人民医院内分泌科

    通信作者：王斐，570311海南省海口市，海南省人民医院内分泌科；E-mail：libby.626@163.com

    【摘要】假性甲状旁腺功能减退症(PHP)是一种罕见的遗传性疾病，具有低血钙、高血磷、甲状旁腺激素(PTH)升高或正常的特点，临床表现为反复低钙搐搦、癫痫样发作，常伴有Albright遗传性骨营养不良症和体格发育延迟，给予补钙和活性维生素D3后症状缓解。该病临床少见，多因手足搐搦和癫痫样发作就诊，误诊率和漏诊率极高。本文讨论了PHP的病因、可能的发病机制、临床表现、诊断、鉴别诊断及治疗方法，旨在通过病例报告提高临床医师对PHP的认识。

    【关键词】假性甲状旁腺功能减退症；Albright遗传性骨营养不良症；低钙血症；诊断；治疗

    【中图分类号】R 582.2

    收稿日期：(2015-05-20；

    王斐，全会标，方团育，等.假性甲状旁腺功能减退症一例报道并文献复习[J].中国全科医学，2015，18(35)：4382-4384，4387.[www.chinagp.net]

    Wang F， Quan HB,Fang TY,et al.Pseudohypoparathyroidism:a case report and literature review[J].Chinese General Practice，2015，18(35)：4382-4384，4387.

    Pseudohypoparathyroidism:A Case Report and Literature ReviewWANGFei，QUANHui-biao,FANGTuan-yu,etal.DepartmentofEndocrinology，HainanProvincialPeople′sHospital，Haikou570311，China

    Abstract【】Pseudohypoparathyroidism (PHP) is a rare disease featured with hypocalcemia,higher serum phosphate level and elevated or normal parathyroid hormone (PTH).Its clinical manifestations are repeated low calcium tetany and epileptic seizures,usually accompanied by Albright hereditary osteodystrophy and physical retardation.Calcium supplement and activated Vitamin D3can alleviated the symptoms.PHP is clinicaly rare,and the patients with PHP seek for treatment mostly due to tetany and epileptic seizures,thus the rates of misdiagnosis and missed diagnsis are high.The article discussed the causes for PHP,possible pathogenesis,clinical manifestations,diagnosis,differential diagnosis and the methods for treatment and aimed to improve clinical physicians′ understanding about PHP through case report. ......