家族性双侧腕管综合征一家系分析并文献复习

Analysis of familial bilateral carpal tunnel syndrome in a family and literature review

目的分析家族性腕管综合征的临床表现、电生理、影像学及分子遗传学特点,尤其是遗传学的研究进展。方法收集家族性腕管综合征一家系中先证者的临床资料、实验室结果、电生理和影像学资料,同时对先证者、先证者之子以及家系中其他患病成员围绕周围神经病行基因学检测。结果家系中患病者均早年即出现典型的双侧腕管综合征,呈常染色体显性遗传模式。通过基因检测排除了合并有遗传性压力易感性周围神经病和家族性淀粉样变性的可能,同时发现了INF2、KIF1B、TRPV4、SCN9A这4个基因存在点突变。结论原发性家族性腕管综合征可能为其他基因异常引起的一种独立的疾病,然而其致病基因是未知的,仍有待我们进一步探索。

Objective To analyze features of clinical manifestation, electrophysiology, imageology and molecular ge-netics of familial carpal tunnel syndrome （FCTS）, especially research progress in genetics. Methods Clinical data, labo-ratory and electrophysiologyical results as well as medical images were collected from the propositus. In addition, genetic analysis around peripheral neuropathy was performed on the proband, son of the proband and the affected relatives in the family. Result Patients showed a typical bilateral CTS with early onset. The mode of inheritance in this family was auto-somal dominant.. Gene sequencing revealed point mutations in INF2, KIF1B, TRPV4 and SCN9A. Besides, the possibili-ty of having hereditary neuropathy with liability to pressure palsy（HNPP）or familial amyloidosis （FAP） was excluded by the molecular genetic studies. Conclusion Primary FCTS exists as a separate autonomic entity, which may be caused by other unknown genes and therefore warrants further exploration.