实践参数：远端对称性多发性神经病的评估：实验室检查和基因检测的作用（循证综述）。美国神经病学学会、美国神经肌肉与电诊断医学协会以及美国物理医学与康复学会报告。

Practice parameter: the evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

作者信息

England J D, Gronseth G S, Franklin G, Carter G T, Kinsella L J, Cohen J A, Asbury A K, Szigeti K, Lupski J R, Latov N, Lewis R A, Low P A, Fisher M A, Herrmann D N, Howard J F, Lauria G, Miller R G, Polydefkis M, Sumner A J

机构信息

Louisiana State University Health Sciences Center, New Orleans, USA.

出版信息

PM R. 2009 Jan;1(1):5-13. doi: 10.1016/j.pmrj.2008.11.010.

DOI:10.1016/j.pmrj.2008.11.010

PMID:19627867

Abstract

BACKGROUND

Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP.

METHODS

A literature review using MEDLINE, EMBASE, Science Citation Index and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based upon the level of evidence.

RESULTS AND CONCLUSIONS

Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B12 with metabolites (methylmalonic acid with or without homocysteine) and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). 2. Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).

摘要

背景

远端对称性多发性神经病（DSP）是最常见的神经病类型。由于对这种疾病的评估尚未标准化，因此对现有文献进行了综述，以提供关于实验室检查和基因检测在DSP评估中作用的循证指南。

方法

使用MEDLINE、EMBASE、科学引文索引和《现刊目次》进行文献综述，以确定1980年至2007年3月期间发表的关于多发性神经病评估的最佳证据。文章根据四级证据方案进行分类，并根据证据水平提出建议。

结果与结论

对于所有多发性神经病患者，可考虑进行筛查实验室检查（C级）。提供最高异常检出率的检查项目是血糖、血清维生素B12及其代谢产物（甲基丙二酸，伴或不伴同型半胱氨酸）以及血清蛋白免疫固定电泳（C级）。如果通过常规血糖检测没有明确的糖尿病证据，对于远端对称性感觉性多发性神经病，可考虑进行糖耐量受损检测（C级）。2. 基因检测已被证实对遗传性神经病的准确诊断和分类有用（A级）。对于表现出遗传性神经病表型的隐源性多发性神经病患者，可考虑进行基因检测（C级）。初始基因检测应以临床表型、遗传模式和电诊断（EDX）特征为指导，应侧重于最常见的异常，即CMT1A重复/HNPP缺失、Cx32（GJB1）和MFN2突变筛查。对于未表现出遗传性神经病表型的隐源性多发性神经病患者，尚无足够证据确定常规基因检测的有用性（U级）。