Leber遗传性视神经病变14484位点突变的中医体质学研究  

The study on constitution theory in traditional Chinese medicine on Leber hereditary optic neuropathy with 14484 mutation

作　　者：孙艳红[1] 韦企平[1] 周剑[1] 曹京源[1] 高颖[1] 李丽[1] 

机构地区：[1]北京中医药大学东方医院眼科,北京100078

出　　处：《中国中医眼科杂志》2009年第5期270-273,共4页China Journal of Chinese Ophthalmology

基　　金：国家自然科学基金(30701120)

摘　　要：目的从流行病学角度研究Leber遗传性视神经病变(LHON)14484基因位点突变的中医体质分型,探讨LHON发病与体质的关系。方法对10例来自不同家系的14484基因位点突变患者进行追踪随访。收集169例母系亲属的临床资料,绘制家系图。同时采用《中医体质调查表》,对135例母系成员进行体质类型调查。结果10家系169位母系亲属LHON外显率为27.8%(47/169)。所有患者均为急性或亚急性发病,双眼受累。经过平均235.81月的随访,71.4%(30/42)视力恢复,女性视力恢复率(78.3%)高于男性(50%)。135例体质调查显示各种体质类型的发病率由高至低依次为气郁质(55.56%)、气虚质(40%)、湿热质(33.33%)、阴虚质(31.82%)、瘀血质(20%)、痰湿质(16.67%)、正常质(12.5%)。体质类型发病率整体比较差异有统计学意义(P<0.05)。剔除样本量小于10的四种体质类型,其余五种体质类型两两比较,正常质-气郁质的发病率差异有统计学意义(P<0.01)。结论LHON14484位点突变的临床特征与其他位点突变相似。体质类型与LHON发病相关。气郁质对LHON的发病影响显著。OBJECTIVE To study the clinical manifestation and the Traditional Medicine Constitution Typing of 14484-gene-locus-mutation LHON in epidemiological points of view, and discuss the relationship between the incidence and the Traditional Medicine Constitution Type of LHON. METHODS The clinical and historical data of 169 matrilineal relatives from 10 separate 14484-gene-locus-mutation LHON families were selected. Pedigree diagrams of each family were drawn. One hundred and thirty-five persons of the 169 matrilineal relatives were tested by the Traditional Medicine Constitution Questionnaire to identify their Traditional Medicine Constitution Type. RESULTS The penetrance of the 169 matrilineal relatives was 27.8% （47/169）. All the patients had acute or sub-acute bilateral vision loss. Seventy-one point four percent of the patients recovered spontaneous during the follow-up of 235.81 months, the recovery rate of female patients（78.3%） was higher than that of male patients（50%）. The incidences of different Traditional Medicine Constitution Types from higher to lower were： Depressed Vital Energy Type（55.56%）, Deft eiency of Vital Energy Type（40%）, Moist Heat Type（33.33%）, Yin Asthenia Type（31.82%）, Stagnant Blood Type（20%）, Phlegmatic Hygrosis Type（16.67%） and Normal Type（12.5%）. There were significant differences between the incidences of all the types （P〈0.05） and between the incidences of Normal Type and Depressed Vital Energy Type （P〈0.01）. CONCLUSIONS The clinical feature of 14484-gene-locus-mutation LHON is similar to LHON with other gene locus mutations. There is correlation between the Tradi- tional Medicine Type and the incidence of LHON. Depressed Vital Energy Type has significant effect on the onset of LHON.

关 键 词：LEBER遗传性视神经病变 14484位点突变 分子生物学 流行病学 中医体质 

分 类 号：R774.6[医药卫生—眼科]