La maladie de Rendu-Osler-Weber : à propos d’une nouvelle observation pédiatrique

Autor:	H. Aloulou, Ines Maaloul, M. Hachicha, L. Sfaihi, Hela Fourati, Z. Mnif, Imene Chabchoub, Thouraya Kamoun
Rok vydání:	2014
Předmět:	medicine.medical_specialty business.industry ACVRL1 Endoglin medicine.disease Dermatology Recurrent epistaxis Severe hypoxemia Visceral malformations Dysplasia hemic and lymphatic diseases Pediatrics Perinatology and Child Health medicine medicine.symptom Telangiectasia business
Zdroj:	Archives de Pédiatrie. 21:768-771
ISSN:	0929-693X
DOI:	10.1016/j.arcped.2014.04.021
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::05225646a62ebbf84b1c105f09caa5ef https://doi.org/10.1016/j.arcped.2014.04.021 Zobrazit plný text záznamu Full Text from ScienceDirect