Wraith James E, Baumgartner Matthias R, Bembi Bruno, Covanis Athanasios, Levade Thierry, Mengel Eugen, Pineda Mercè, Sedel Frédéric, Topçu Meral, Vanier Marie T, Widner Hakan, Wijburg Frits A, Patterson Marc C
Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.
Niemann-Pick disease type C (NP-C) is a lysosomal storage disease in which impaired intracellular lipid trafficking leads to excess storage of cholesterol and glycosphingolipids in the brain and other tissues. It is characterized clinically by a variety of progressive, disabling neurological symptoms including clumsiness, limb and gait ataxia, dysarthria, dysphagia and cognitive deterioration (dementia). Until recently, there has been no disease-modifying therapy available for NP-C, with treatment limited to supportive measures. In most countries, NP-C is managed through specialist centers, with non-specialist support provided locally. However, effective patient support is hampered by the absence of national or international clinical management guidelines. In this paper, we seek to address this important gap in the current literature. An expert panel was convened in Paris, France in January 2009 to discuss best care practices for NP-C. This commentary reviews current literature on key aspects of the clinical management of NP-C in children, juveniles and adults, and provides recommendations based on consensus between the experts at the meeting.
尼曼-皮克病C型（NP-C）是一种溶酶体贮积病，细胞内脂质转运受损导致胆固醇和糖鞘脂在脑和其他组织中过度蓄积。其临床特征为多种进行性、致残性神经症状，包括笨拙、肢体和步态共济失调、构音障碍、吞咽困难和认知衰退（痴呆）。直到最近，NP-C仍没有疾病修饰治疗方法，治疗仅限于支持性措施。在大多数国家，NP-C通过专科中心进行管理，由当地提供非专科支持。然而，由于缺乏国家或国际临床管理指南，有效的患者支持受到阻碍。在本文中，我们试图填补当前文献中的这一重要空白。2009年1月在法国巴黎召开了一个专家小组会议，讨论NP-C的最佳护理实践。本评论回顾了关于儿童、青少年和成人NP-C临床管理关键方面的当前文献，并根据会议专家之间的共识提供了建议。
