[Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children]

Autor:	O Ramírez, Balza, L, García-Guereta, M D Rubio, Vidal, M J del Cerro, Marín, M Parrón, Pajares
Rok vydání:	2010
Předmět:	Male Humans Telangiectasia Hereditary Hemorrhagic Child Hypoxia
Zdroj:	Anales de pediatria (Barcelona, Spain : 2003). 73(5)
ISSN:	1695-9531 3000-5000
Popis:	Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000-5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM). We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::cce8146c447dfce0414ad9cbaee0a9b5 https://pubmed.ncbi.nlm.nih.gov/20813596 Zobrazit plný text záznamu