Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
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DOI：
10.1212/cpj.0000000000000399
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发表时间：
2017-12
期刊：
影响因子：
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通讯作者：
Marquardt T
中科院分区：
文献类型：
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作者：
Patterson MC;Clayton P;Gissen P;Anheim M;Bauer P;Bonnot O;Dardis A;Dionisi-Vici C;Klünemann HH;Latour P;Lourenço CM;Ory DS;Parker A;Pocoví M;Strupp M;Vanier MT;Walterfang M;Marquardt T
尼曼-匹克病C型（NP-C）是一种神经内脏疾病，可能比早期估计的更为普遍。NP-C的诊断常常被延迟；临床实践的一个关键目标是减少这种延迟。最近，在NP-C筛查和诊断领域取得了重大进展，有理由对现有的临床实践建议进行更新。新的生物标志物分析和遗传分析技术被列入NP-C的一线诊断测试。现在大多数诊断都可以通过生物标志物和基因分析的结合来证实。Filipin染色对不确定的病例可能有助于诊断。建议提供给精神科医生，神经眼科医生和放射科医生，并筛选特定的高危患者队列。对NP-C诊断算法进行了更新和简化。本出版物为临床医生提供了专家建议，这些临床医生可能会看到出现NP-C症状和体征的患者，包括全科医生、儿科医生、神经科医生和精神科医生。
Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C. Most diagnoses can now be confirmed by combination of biomarker and genetic analyses. Filipin staining may facilitate diagnosis in uncertain cases. Recommendations are provided for psychiatrists, neuro-ophthalmologists, and radiologists, and on screening within specific at-risk patient cohorts. The NP-C diagnostic algorithm has been updated and simplified. This publication provides expert recommendations for clinicians who may see patients presenting with the signs and symptoms of NP-C, including general practitioners, pediatricians, neurologists, and psychiatrists.