폐 동정맥 기형과 비장 동정맥 기형을 동반한 유전 출혈 모세혈관 확장증 1례 = Hereditary Hemorrhagic Telangiectasia with Pulmonary and Splenic Arteriovenous Malformation

국문 초록 (Abstract)

유전 출혈 모세혈관 확장증은 혈관 생성 유전자의 이상에 의해 나타나는 상염색체 우성 질환으로, 국내에서는 산발적으로 보고되고 있다. 저자들은 평소 비출혈이 있으며 우연히 발견된 폐 결절이 있는 환아에서 영상 소견과 유전자 검사로 폐 및 비장 동정맥 기형을 동반한 유전 출혈 모세혈관 확장증을 진단하고 치료하였기에 보고하는 바이다.

다국어 초록 (Multilingual Abstract)

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant vascular disorder involving arteriovenous malformation (AVM) due to angiodysplasia. HHT is characterized by mucocutaneous hemorrhagic telangiectasia and AVM of various different organs. The mutated genes in HHT encode proteins that mediate signaling by the transforming growth factor-β superfamily, leading to migration and proliferation of endothelial cells to finally result in AVMs of various organs. Amongst various affected organs, pulmonary AVM is the most common. This 11-year-old female patient with a past and familial history of frequent epistaxis visited the hospital for abdominal pain and vomiting which developed on the same day. Nodular opacity was found in chest X-ray. Subsequently, AVMs in the lungs and the spleen were recognized in chest computed tomography along with detection of ENG gene mutation. Here we report a case of hereditary hemorrhagic telangiectasia diagnosed by incidental chest X-ray findings followed by genetic and radiologic studies. [Pediatr Allergy Respir Dis(Korea) 2012;22:438-443 ]