Understanding the evolving phenotype of vascular complications in telomere biology disorders
Understanding the evolving phenotype of vascular complications in telomere biology disorders
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DOI：
10.1007/s10456-018-9640-7
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发表时间：
2019-02-01
期刊：
影响因子：
9.8
通讯作者：
Savage, Sharon A.
中科院分区：
文献类型：
--
作者：
Higgs, Cecilia;Crow, Yanick J.;Savage, Sharon A.
血管并发症，如胃肠道毛细血管扩张性异常引起的出血、肺动静脉畸形、肝肺综合征和视网膜血管异常，在端粒生物紊乱(Tbds)患者中的报告比以前描述的更频繁。端粒相关疾病和家庭支持组织先天性角化不良的国际临床护理联盟于2017年10月在国家癌症研究所举办了一次关于TBD中血管异常的研讨会。临床医生和基础科学家回顾了目前关于血管并发症的数据、潜在生物学的假说，并开展了新的合作，以解决TBDS中血管并发症的病因和临床处理。
Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies, pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel abnormalities are being reported in patients with telomere biology disorders (TBDs) more frequently than previously described. The international clinical care consortium of telomere-associated ailments and family support group Dyskeratosis Congenita Outreach, Inc. held a workshop on vascular abnormalities in the TBDs at the National Cancer Institute in October 2017. Clinicians and basic scientists reviewed current data on vascular complications, hypotheses for the underlying biology and developed new collaborations to address the etiology and clinical management of vascular complications in TBDs.