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[Pulmonary involvement in Osler-Weber-Rendu syndrome].

作者信息

Bron-Harlev E, Zeevi B, Garty B Z

机构信息

Dept. of Medicine B, Schneider Children's Medical Center, Petah Tikva.

出版信息

Harefuah. 2000 Mar 1;138(5):362-5, 423.

Abstract

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a group of autosomal dominant diseases with variable penetration, characterized by vascular malformations. Recently hereditary hemorrhagic telangiectasia has been found to be a phenotypic expression of mutations in genes located on chromosomes 9 and 12, and possibly of other genes located on other chromosomes. We describe 2 patients with hereditary hemorrhagic telangiectasia and pulmonary involvement who presented with repeated complaints of dyspnea and cyanosis and were diagnosed as having long-standing asthma. Both were treated with therapeutic catheterization and embolization with good clinical outcomes.

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