作者：张怡琳,范成河,赵莘瑜,孔祥东,夏艳洁,田雨,王晓放,刘盼盼

单位：

1.450052 河南省郑州市，郑州大学第一附属医院神经内科　2.450052 河南省郑州市，郑州大学第一附属医院遗传与产前诊断中心 通信作者：赵莘瑜，E-mail：cindy_zhaoxinyu@163.com

Units：

1.Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China 2.Center of Genetics and Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China Corresponding author: ZHAO Xinyu, E-mail: cindy_zhaoxinyu@163.com

关键词：

周围神经系统疾病; 遗传性压力易感性周围神经病; 周围髓鞘蛋白22; 基因检测; 病例报告;

Keywords：

Peripheral nervous system diseases; Hereditary neuropathy with liability to pressure palsies; Peripheralmyelin protein 22; Genetic testing; Case reports

CLC：

DOI：

10.12114/j.issn.1008-5971.2021.00.263

Funds：

国家自然科学基金资助项目（81801167）；河南省医学科技攻关计划联合共建项目（LHGJ20190079）；河南省医 学科技攻关计划项目（2018010008）

摘要：

背景遗传性压力易感性周围神经病(HNPP)是一种临床少见的常染色体显性遗传病,易被误诊为其他周围神经病,目前对该病的报道较少。目的 探讨HNPP的临床特点及预后情况。方法 回顾性分析2015年12月至2018年12月郑州大学第一附属医院收治的3例HNPP患者的临床资料。检索PubMed、中国知网、万方数据知识服务平台2010—2020年所有关键词/标题中含有“遗传性压力易感性周围神经病”“hereditary neuropathy with liability to pressure palsies”“HNPP”字样的文献。共检索到国内外文献报道的中国HNPP患者25例,结合本文3例,共纳入28例患者。结果 28例患者中,男22例,女6例;平均年龄(20.1±11.1)岁,发病年龄<20岁者19例(67.9%);有诱发因素17例(60.7%)(其中肢体牵拉或受压8例、剧烈运动或劳累6例、受凉3例);临床表现:肢体麻木和/或无力28例(100.0%),合并屈曲畸形2例(7.1%),合并疼痛1例(3.6%),合并跛行1例(3.6%);神经系统检查:四肢或双上/下肢腱反射减低或消失18例(64.3%),肌肉萎缩7例(25.0%),弓形足2例(7.1%);基因突变类型:缺失突变27例(96.4%),点突变1例(3.6%);受累神经:腓神经7例(25.0%),正中神经6例(21.4%),尺神经6例(21.4%),胫神经5例(18.0%),桡神经2例(7.1%),臂丛神经2例(7.1%);肌电图检查结果均提示比临床表现更加广泛的周围神经损伤;有家族史17例(60.7%);24例(85.7%)给予营养神经治疗症状好转,4例(14.3%)给予激素治疗症状好转。结论 HNPP的主要临床表现为肢体无力和/或麻木,可能存在亚临床症状,应尽早行神经电生理检查以明确病变范围,基因检测发现周围髓鞘蛋白22(PMP22)基因缺失突变可以确诊。该病预后通常良好。

Abstract：

【Abstract】　Background Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare clinicalautosomal dominant genetic disease, which can easily be misdiagnosed as other peripheral neuropathy. There are few reports onthe disease at present. Objective To explore the clinical features and prognosis of HNPP. Methods The clinical data of 3patients with HNPP admitted to the First Affiliated Hospital of Zhengzhou University from December 2015 to December 2018were retrospectively analyzed. The documents containing the words " 遗传性压力易感性周围神经病 " "hereditary neuropathywith liability to pressure palsies" "HNPP" in the keywords/titles in PubMed, CNKI, and Wanfang Data from 2010 to 2020 weresearched. A total of 25 Chinese HNPP patients reported in domestic and foreign literature were retrieved, combined with 3 casesin this article, a total of 28 patients were included. Results Among the 28 patients, there were 22 males and 6 females; theaverage age was (20.1±11.1) years, and 19 cases (67.9%) were younger than 20 years old; 17 cases (60.7%) had predisposingfactors (including 8 cases of limb traction or compression, 6 cases of strenuous exercise or fatigue and 3 cases of cold) ; clinicalmanifestations: limb numbness and/or weakness in 28 cases (100.0%) , flexion deformity in 2 cases (7.1%) , pain in 1 case (3.6%) ,claudication in 1 case (3.6%) ; nervous system examination: 18 cases (64.3%) decreased or disappeared in extremities or bothupper and lower extremities tendon reflexes, 7 cases (25.0%) of muscle atrophy, 2 cases (7.1%) of arcuate foot; gene mutationtypes: deletion mutation in 27 cases (96.4%) , point mutation in 1 case (3.6%) ; affected nerves: peroneal nerve in 7 cases (25.0%) ,median nerve in 6 cases (21.4%) , ulnar nerve in 6 cases (21.4%) , tibial nerve in 5 cases (18.0%) , radial nerve in 2 cases (7.1%) ,brachial plexus nerve in 2 cases (7.1%) ; the results of electromyography showed more extensive peripheral nerve damage thanclinical manifestations; 17 cases (60.7%) had family history; 24 cases (85.7%) were treated with nutritional nerve therapy, 4 cases(14.3%) were treated with hormone therapy, and their symptoms improved.Conclusion The main clinical manifestation of HNPPis limb weakness and/or numbness, and there may be subclinical symptoms. Neuroelectrophysiological examination should beperformed as early as possible to clarify the scope of the disease. Gene detection found that peripheral myelin protein 22 (PMP22)gene mutation can be diagnosed. The prognosis of the disease is usually good.

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