Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update
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DOI：
10.1016/j.ymgme.2012.03.012
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发表时间：
2012-07-01
影响因子：
3.8
通讯作者：
Wijburg, Frits
中科院分区：
文献类型：
--
作者：
Patterson, Marc C.;Hendriksz, Christian J.;Wijburg, Frits
C型尼曼-皮克病(NP-C)是一种罕见的遗传性神经内脏疾病，由NPC1(95%的病例)或NPC2基因(约5%的病例)突变引起，导致细胞内脂质运输受损，胆固醇和神经鞘糖脂在脑和其他组织中积聚。NP-C的典型神经学表现包括眼球跳动(SEM)异常或垂直核上性凝视麻痹(VSGP)、小脑体征(共济失调、肌张力障碍/运动障碍、构音障碍和吞咽困难)和弹力性猝倒。癫痫发作在受影响的患者中也很常见。通常情况下，神经系统疾病发生在儿童时期，尽管越来越多的病例在成年期间根据晚发的神经体征和精神表现被发现和诊断。根据神经系统症状(即早期婴儿、晚期婴儿、青少年和青少年/成人发病)的发病年龄对评估病程和治疗反应有帮助。2009年发布了第一份儿童和成人NP-C临床管理的国际指南。自那时以来，已经公布了大量关于NP-C的流行病学、检测/诊断和治疗的数据。在这里，我们根据2011年9月在法国巴黎举行的后续会议，报告在NP-C诊断和治疗方面专家们的共识。这篇文章是对最初指南的更新，除其他外，提供了关于检测/诊断方法、潜在的监测疾病进展的新方法和治疗的进一步信息。治疗目标和米非司坦的疾病特异性治疗的应用也被重新评估。(C)2012 Elsevier Inc.保留所有权利。
Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Characteristic neurological manifestations of NP-C include saccadic eye movement (SEM) abnormalities or vertical supranuclear gaze palsy (VSGP), cerebellar signs (ataxia, dystonia/dysmetria, dysarthria and dysphagia) and gelastic cataplexy. Epileptic seizures are also common in affected patients. Typically, neurological disease onset occurs during childhood, although an increasing number of cases are being detected and diagnosed during adulthood based on late-onset neurological signs and psychiatric manifestations. Categorization of patients according to age at onset of neurological manifestations (i.e. early-infantile, late-infantile, juvenile and adolescent/adult-onset) can be useful for the evaluation of disease course and treatment responses. The first international guidelines for the clinical management of NP-C in children and adults were published in 2009. Since that time a significant amount of data regarding the epidemiology, detection/diagnosis, and treatment of NP-C has been published. Here, we report points of consensus among experts in the diagnosis and treatment of NP-C based on a follow-up meeting in Paris, France in September 2011. This article serves as an update to the original guidelines providing, among other things, further information on detection/diagnostic methods, potential new methods of monitoring disease progression, and therapy. Treatment goals and the application of disease-specific therapy with miglustat are also re-evaluated. (C) 2012 Elsevier Inc. All rights reserved.