McCue C M, Hartenberg M, Nance W E
Am J Med Genet. 1984 Sep;19(1):19-27. doi: 10.1002/ajmg.1320190105.
Interest in Rendu-Osler-Weber (ROW) syndrome has been renewed because of new treatment for the pulmonary artery fistulae that occur in approximately one-half of the patients. Pulmonary arteriovenous malformations (AVM) can be occluded safely by the transvenous placement of a silicone balloon thus avoiding the many potential complications of thoracotomy. Thirty-three members of four generations of a family with ROW illustrate the varied manifestations of the syndrome and provide a basis for review of clinical findings and therapeutic approaches to the management of pulmonary AVMs during the last 25 years. Special attention is given to early detection and prevention of major complications. Since ROW syndrome is an inherited trait, informed genetic counseling is an important component of the overall management of families with this disorder.
由于对约半数患者出现的肺动脉瘘有了新的治疗方法，人们对遗传性出血性毛细血管扩张症（Rendu - Osler - Weber综合征，简称ROW综合征）的兴趣再度燃起。经静脉置入硅胶球囊可安全封堵肺动静脉畸形（AVM），从而避免开胸手术的诸多潜在并发症。一个患有ROW综合征的家族四代中的33名成员展示了该综合征的多样表现，并为回顾过去25年中肺AVM的临床发现及治疗方法提供了依据。特别关注了主要并发症的早期检测和预防。由于ROW综合征是一种遗传性状，明智的遗传咨询是对患有该疾病的家庭进行全面管理的重要组成部分。
