[遗传性出血性毛细血管扩张症。一例儿科病例报告]

[Hereditary hemorrhagic telangiectasia. Report of a pediatric case].

作者信息

Maaloul I, Aloulou H, Fourati H, Sfaihi L, Chabchoub I, Kamoun T, Mnif Z, Hachicha M

机构信息

Service de pédiatrie générale, CHU Hédi Chaker, route El Ain Km 0,5, 3029 Sfax, Tunisie.

出版信息

Arch Pediatr. 2014 Jul;21(7):768-71. doi: 10.1016/j.arcped.2014.04.021. Epub 2014 Jun 13.

DOI:10.1016/j.arcped.2014.04.021

PMID:24935454

Abstract

Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.

摘要

遗传性出血性毛细血管扩张症，即遗传性出血性毛细血管扩张症（Rendu-Osler-Weber综合征），是一种常染色体显性多器官疾病。这种多系统血管发育异常由两个主要基因之一的突变决定，即内皮糖蛋白（ENG）或HHT1，或激活素受体样激酶1（ACVRL1）或HHT2。这些突变引发血管疾病，导致反复鼻出血，并最终形成多发性毛细血管扩张症和内脏动静脉畸形。我们报告了一名7岁女孩的病例，该女孩因多发性肺动静脉畸形而出现严重低氧血症。