目的从临床、电生理及病理方面对遗传性压迫易感性神经病（ＨＮＰＰ）进行探讨，以提高对本病的认识。方法４例经临床及腓肠神经活检确诊，肌电图检测临床受累或未受累的肢体的感觉或运动传导速度；腓肠神经活检标本分别做ＨＥ、Ｍａｓｏｎ染色和Ｆｌｅｍｍｉｎｇ染色光镜观察。结果肌电图为广泛神经传导异常，甚至出现在临床未受累的神经支配区；腓神经活检显示部分神经纤维明显增粗，轴索正常。结论ＨＮＰＰ与遗传关系密切，但也有散发，电生理检查是重要的筛选手段，神经活检见到髓鞘增粗或典型的腊肠样结构是重要的确诊手段 Objective To investigate the genetic compression susceptibility neuropathy (HNPP) in clinical, electrophysiological and pathological aspects to improve the understanding of this disease. Methods Four cases were diagnosed by clinical and sural nerve biopsy. The electromyography was used to detect the sensory or motor conduction velocity of the limbs involved or not. The sural nerve biopsy specimens were observed under HE, Mason and Flemming staining respectively. Results Electromyography was a wide range of nerve conduction abnormalities, even in the clinical non-involvement of the innervated area; peroneal nerve biopsy showed some nerve fibers were significantly thicker axonal normal. Conclusion HNPP is closely related to the genetics, but also distributed. Electrophysiological examination is an important screening method. Nerve biopsy to see myelin sheath thickening or typical sausage-like structure is an important diagnostic tool