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Marfan syndrome: improved clinical history results in expanded natural history.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-12-21 , DOI: 10.1038/s41436-018-0399-4
Reed E Pyeritz 1
Affiliation  

Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan syndrome. Examples are the distal aorta and peripheral arteries, ventricular function, the central nervous system, sleep apnea, and adiposity. As a result, each person with Marfan syndrome will need to be evaluated and followed by more specialists than previously. Moreover, the coordinator of diagnostic testing and clinical referral must be aware of the expanded phenotype as people with Marfan syndrome age and the importance of life-long management of classical and novel features. The benefits of increased longevity and its consequences need to be addressed by investigators, health-care providers, and patients alike.

中文翻译:

马凡综合征:改善的临床病史导致扩大的自然病史。

在过去的四十年里,马凡综合征患者的预期寿命基本上翻了一番。在此期间,常规管理的器官的临床病史有所改善,并将继续改善。突出的例子是眼睛、心脏和主动脉,以及骨骼系统的一些特征。同时,需要描述未接受治疗的器官系统的自然史。这一点尤其重要,因为由于许多症状和器官系统的寿命延长,直到最近才被认为是马凡综合征固有的。例如远端主动脉和外周动脉、心室功能、中枢神经系统、睡眠呼吸暂停和肥胖。因此,每个患有马凡氏综合症的人都需要比以前更多的专家进行评估和跟踪。此外,诊断测试和临床转诊的协调员必须意识到随着马凡综合征患者年龄的扩大以及对经典和新特征进行终身管理的重要性。研究人员、医疗保健提供者和患者等需要解决延长寿命的好处及其后果。
更新日期:2019-01-26
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