CAJ | 학술논문

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。
가성갑상방선공능감퇴증（ PHP）시일충한견적유전성질병，구유저혈개、고혈린、갑상방선격소（ PTH）승고혹정상적특점，림상표현위반복저개휵닉、전간양발작，상반유Albright유전성골영양불량증화체격발육연지，급여보개화활성유생소D3후증상완해。해병림상소견，다인수족휵닉화전간양발작취진，오진솔화루진솔겁고。본문토론료PHP적병인、가능적발병궤제、림상표현、진단、감별진단급치료방법，지재통과병례보고제고림상의사대PHP적인식。
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 D3 can 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.