Suppr超能文献

儿童遗传性血管性水肿:一项不容错过的具有挑战性的诊断。

Hereditary angioedema in childhood: a challenging diagnosis you cannot afford to miss.

作者信息

Kjaer Line, Bygum Anette

机构信息

Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

出版信息

Pediatr Dermatol. 2013 Jan-Feb;30(1):94-6. doi: 10.1111/j.1525-1470.2011.01675.x. Epub 2012 Jan 26.

Abstract

Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of recurrent skin swellings and abdominal pain leading to several hospital admissions. The aim of this report is to direct focus on this rare disease, which can be treated effectively, to diminish morbidity and mortality of children suffering from undiagnosed HAE.

摘要

遗传性血管性水肿(HAE)是一种罕见的遗传性疾病,通常难以诊断。我们报告了一例9岁男孩,其因自发突变导致HAE,在经历了5年反复出现皮肤肿胀和腹痛并多次住院后,因一次危及生命的头颈部和上呼吸道血管性水肿发作而被诊断出来。本报告的目的是将重点放在这种可有效治疗的罕见疾病上,以降低未被诊断出患有HAE的儿童的发病率和死亡率。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验