Consensus clinical management guidelines for Niemann-Pick disease type C.
Consensus clinical management guidelines for Niemann-Pick disease type C.
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DOI：
10.1186/s13023-018-0785-7
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发表时间：
2018-04-06
影响因子：
3.7
通讯作者：
International Niemann-Pick Disease Registry (INPDR)
中科院分区：
文献类型：
--
作者：
Geberhiwot T;Moro A;Dardis A;Ramaswami U;Sirrs S;Marfa MP;Vanier MT;Walterfang M;Bolton S;Dawson C;Héron B;Stampfer M;Imrie J;Hendriksz C;Gissen P;Crushell E;Coll MJ;Nadjar Y;Klünemann H;Mengel E;Hrebicek M;Jones SA;Ory D;Bembi B;Patterson M;International Niemann-Pick Disease Registry (INPDR)
尼曼-匹克C型（NPC）是一种进行性和限制生命的常染色体隐性遗传疾病，由NPC 1或NPC 2基因突变引起。这些基因中的突变与异常的内体-溶酶体运输相关，导致多种组织特异性脂质在溶酶体中积累。NPC疾病的临床范围从新生儿快速进行性致命疾病到成人发病的慢性神经退行性疾病。第一个神经系统症状的发病年龄（超过3个月）可以预测疾病的严重程度，并决定预期寿命。NPC的发病率估计为1：100，000，这种疾病的罕见性导致误诊，延误诊断和良好护理的障碍。出于这些原因，我们制定了临床指南，定义了NPC患者的护理标准，促进专家中心和家庭医生之间的共享护理安排，并赋予患者权力。这些指南中包含的信息是通过对文献和作者护理NPC患者的经验进行系统综述获得的。我们采用了研究与评价指南评估（AGREE II）系统作为指南制定过程的选择方法。我们做了一系列结论性的陈述，并根据证据的等级、建议的力度和专家的意见进行评分。这些指南可以告知护理提供者，护理资助者，患者及其照顾者NPC患者的最佳护理实践。此外，这些准则还确定了未来研究必须填补的知识空白。预计这些指南的实施将导致NPC患者的护理质量发生飞跃性变化，无论其地理位置如何。
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy. NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.
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影响因子：
3.7
作者：
Abel LA;Bowman EA;Velakoulis D;Fahey MC;Desmond P;Macfarlane MD;Looi JC;Adamson CL;Walterfang M
通讯作者：
Walterfang M
影响因子：
3.7
作者：
Abela L;Plecko B;Palla A;Burda P;Nuoffer JM;Ballhausen D;Rohrbach M
通讯作者：
Rohrbach M
影响因子：
2.2
作者：
Fancello, Tatiana;Dardis, Andrea;Filocamo, Mirella
通讯作者：
Filocamo, Mirella
影响因子：
3.8
作者：
Macias-Vidal, Judit;Gort, Laura;Coll, Maria Josep
通讯作者：
Coll, Maria Josep
影响因子：
3.7
作者：
Héron B;Valayannopoulos V;Baruteau J;Chabrol B;Ogier H;Latour P;Dobbelaere D;Eyer D;Labarthe F;Maurey H;Cuisset JM;de Villemeur TB;Sedel F;Vanier MT
通讯作者：
Vanier MT