PMP22基因缺失及遗传性压力易感性周围神经病相关研究  

Correlation between PMP22 Gene Deletion and Hereditary Stress Susceptibility to Peripheral Neuropathy

作　　者：吴玉洁 苗乃周[1] WU Yu-jie;MIAO Nai-zhou(Xi'an Siyuan College,School of Nursing,Xi'an,Shanxi Province,710038 China)

机构地区：[1]西安思源学院护理学院,陕西西安710038

出　　处：《系统医学》2020年第1期196-198,共3页Systems Medicine

摘　　要：为提高患者自身、家属及临床工作者对人类周围髓鞘蛋白22基因(peripheral myelin protein-22,PMP22)及其导致的遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)的认知和诊断水平,该文对PMP22基因及其导致的主要神经病进行了论述,并着重论述了遗传性压力易感性周围神经病(HNPP)的临床表现、神经电生理学检查结果、神经病理学及其发病机制等方面。在此基础上,对HNPP患者的预防和治疗提出了一些建议供参考。In order to improve the patient's own,family and clinicians'peripheral myelin protein-22(PMP22)and hereditary neuropathy with liability to pressure palsies(HNPP)Cognitive and diagnostic levels,this paper discusses the PMP22 gene and its major neuropathies,and focuses on the clinical manifestations,neuroelectrophysiological findings,neuropathology and hereditary stress susceptibility peripheral neuropathy(HNPP)Pathogenesis and other aspects.On this basis,some suggestions for the prevention and treatment of HNPP patients are provided for reference.

关 键 词：人类周围髓鞘蛋白22基因 遗传性压力易感性周围神经病 发病机制 

分 类 号：R745[医药卫生—神经病学与精神病学]