Kjaer Line, Bygum Anette
Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
Pediatr Dermatol. 2013 Jan-Feb;30(1):94-6. doi: 10.1111/j.1525-1470.2011.01675.x. Epub 2012 Jan 26.
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.
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。