CURRENT CONCEPTS - HEREDITARY HEMORRHAGIC TELANGIECTASIA

被引:749
作者
GUTTMACHER, AE
MARCHUK, DA
WHITE, RI
机构
[1] UNIV VERMONT,COLL MED,DEPT PEDIAT,BURLINGTON,VT
[2] DUKE UNIV,MED CTR,DEPT GENET,DURHAM,NC
[3] YALE UNIV,SCH MED,DEPT DIAGNOST RADIOL,NEW HAVEN,CT
关键词
D O I
10.1056/NEJM199510053331407
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Identified nearly a century ago, hereditary hemorrhagic telangiectasia, or Rendu–Osler–Weber syndrome, has long been viewed as a rare condition producing minor discomfort for affected persons. However, this disorder is now considered to be more common than previously thought,1–5 and the associated brain and pulmonary lesions are sources of substantial morbidity and mortality.3,6–8 Wider recognition of the condition and awareness of its sequelae can help avoid the considerable risks associated with its mismanagement. Advances in molecular genetics have demonstrated that hereditary hemorrhagic telangiectasia is actually a group of autosomal dominant disorders.9–13 The recent identification of the gene. © 1995, Massachusetts Medical Society. All rights reserved.
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页码:918 / 924
页数:7
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