假性甲状旁腺功能减退症的诊断与治疗研究进展

Progress of diagnosis and clinical management of pseudohypoparathyroidlsm

假性甲状旁腺功能减退症（PHP）是一种罕见的遗传病，其临床特点以甲状旁腺激素抵抗为主，部分合并典型的Albright遗传性骨营养不良，表现复杂多样，易漏诊或误诊。现重点介绍PHPI型的发病机制、临床表现及诊疗进展，以提高本病的诊断水平。

Pseudohypoparathyroidism（PHP） is a rare genetic disorder. The main character is parathyroid hormone resistance, and some with typical Albright＇s Hereditary Osteodystrothy malformation. The wide range of PHP symptom spectrum may lead to miss or misdiagnosis. This paper reviewed and summarized the pathogenesis, manifesta- tion and the progress on the diagnosis and treatment of PHP I , so as to improve the diagnostic level of this disease.