Hereditary Hemorrhagic Telangiectasia with Pulmonary and Splenic Arteriovenous Malformation / 소아알레르기및호흡기학회지
Pediatric Allergy and Respiratory Disease
;
: 438-443, 2012.
Artículo
en Coreano
| WPRIM
| ID: wpr-227500
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-beta 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Malformaciones Arteriovenosas
/
Bazo
/
Telangiectasia Hemorrágica Hereditaria
/
Telangiectasia
/
Tórax
/
Vómitos
/
Proteínas
/
Dolor Abdominal
/
Epistaxis
/
Angiodisplasia
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Pediatric Allergy and Respiratory Disease
Año:
2012
Tipo del documento:
Artículo
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