| 摘要: |
| 假性甲状旁腺功能减退症(Pseudohypoparathyroidism,PHP)是指一组以低钙、高磷和甲状旁腺激素(PTH)抵抗为特征的显性/隐性遗传病。主要临床表现为反复低钙性抽搐,常伴有语言及体格发育迟缓和Albright 遗传性骨营养不良症,给予补钙后症状可缓解。此病临床少见,多以手足抽搐就诊,常导致误诊及漏诊。本文主要对PHP的鉴别诊断、治疗等方面展开讨论,旨在通过这一典型的病例报道,提高广大临床工作者对此病的认识。 |
| 关键词: 假性甲状旁腺功能减退症 手足抽搐 甲状旁腺激素 钙 磷 |
| DOI：10.16781/j.0258-879x.2020.03.0342 |
| 投稿时间：2019-07-30修订日期：2019-11-20 |
| 基金项目: |
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| Pseudohypoparathyroidism: a case report |
| LIU Xiao-teng1,ZHANG Ying1,SUN Qi-tian2,JIN Feng-biao2,HOU Rui-tian1,GAO Yu2* |
(1. Department of Cardiac Electrophysiology, Affiliated Hospital of Chengde Medical College, Chengde 067000, Hebei, China;
2. Department of Endocrinology, Affiliated Hospital of Chengde Medical College, Chengde 067000, Hebei, China
*Corresponding author) |
| Abstract: |
| Pseudohypoparathyroidism (PHP) is a group of dominant/recessive genetic diseases characterized by low calcium, high phosphorus and parathyroid hormone (PTH) resistance. The main clinical manifestations are repeated low-calcification convulsions, often accompanied by language and physical developmental delay and Albright hereditary osteodystrophy. Symptoms can be relieved after calcium supplementation. The disease is rare in clinical practice, and it is often caused by hand and foot convulsions, which often leads to misdiagnosis and missed diagnosis. This article mainly discusses the classification and mechanism of PHP, differential diagnosis, treatment and other aspects, aiming to improve the understanding of the majority of clinicians through this typical case report. |
| Key words: pseudohypoparathyroidism hand and foot twitching parathyroid hormone calcium phosphorus |
