Suppr超能文献

一名患有甲状旁腺激素抵抗(假性甲状旁腺功能减退症)的年轻女孩的恐高症

Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).

作者信息

Gilani Mehwish, Memon Asif Ali, Asif Naveed, Basharat Nida

机构信息

Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi and National University of Medical Sciences (NUMS), Rawalpindi.

出版信息

J Coll Physicians Surg Pak. 2018 Sep;28(9):S166-S168. doi: 10.29271/jcpsp.2018.09.S166.

Abstract

Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.

摘要

假性甲状旁腺功能减退症(PHP)是一组极为罕见的疾病。它是由终末器官对甲状旁腺激素(PTH)抵抗引起的一系列疾病,其特征是通过G蛋白(GSα)的α亚基激活cAMP依赖性途径的信号传导受损。其特点是低钙血症、高磷血症、由于对PTH的生物活性不敏感导致PTH水平升高,以及肾功能检查正常。我们描述了一名10岁女孩的病例,她表现出恐高。她的实验室检查和骨骼检查显示有PHP的证据以及奥尔布赖特遗传性骨营养不良(AHO)的特征,提示为1a型PHP的诊断。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验