Van Haren Keith, Bonkowsky Joshua L, Bernard Genevieve, Murphy Jennifer L, Pizzino Amy, Helman Guy, Suhr Dean, Waggoner Jacque, Hobson Don, Vanderver Adeline, Patterson Marc C
Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA.
Department of Pediatrics and Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.
Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide spectrum of genetic origins. Although no definitive cures exist, all of these conditions are treatable. This report provides the first expert consensus on the recognition and treatment of medical and psychosocial complications associated with leukodystrophies. We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies. We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies.
脑白质营养不良是遗传性疾病,其主要病理生理学特征是脑髓鞘异常沉积或进行性破坏。尽管有广泛的遗传起源,但脑白质营养不良患者表现出许多相同的症状和医学并发症。虽然尚无确切的治愈方法,但所有这些病症都是可治疗的。本报告提供了关于识别和治疗与脑白质营养不良相关的医学和心理社会并发症的首个专家共识。我们讨论了严重且可能可预防的医学并发症,并提出了几种预防保健策略。我们还概述了未来研究的必要性,即优先考虑临床需求,随后制定、验证和优化具体的护理策略。