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一个没有痛苦或泪水的世界。

A world without pain or tears.

作者信息

Axelrod Felicia B

机构信息

Dysautonomia Treatment and Evaluation Center, NYU Medical Center, 530 First Avenue, suite 9Q, New York, NY 10016, USA.

出版信息

Clin Auton Res. 2006 Apr;16(2):90-7. doi: 10.1007/s10286-006-0326-7.

Abstract

The world of the child with familial dysautonomia (FD), a genetic disorder affecting development of the sensory and autonomic nervous system, is not idyllic. However, over the last 35 years advances in supportive treatments have improved morbidity and mortality. Recent genetic breakthroughs have further expanded thinking about this disorder and suggested innovative approaches to modifying genetic expression. This article reviews the current supportive treatment modalities and their rationale, as well as the suggested new treatments that may alter the function and prognosis of an individual affected with FD.

摘要

患有家族性自主神经功能障碍(FD)的儿童世界并非田园诗般美好。家族性自主神经功能障碍是一种影响感觉和自主神经系统发育的遗传性疾病。然而,在过去35年里,支持性治疗的进展改善了发病率和死亡率。最近的基因突破进一步拓展了对这种疾病的认识,并提出了改变基因表达的创新方法。本文回顾了当前的支持性治疗方式及其原理,以及可能改变FD患者功能和预后的新治疗建议。

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