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作 者:孙艳红[1] 韦企平[1] 周剑[1] 廖良[1] 高颖[1]
机构地区:[1]北京中医药大学东方医院眼科,北京100078
出 处:《北京中医药大学学报》2013年第5期349-352,共4页Journal of Beijing University of Traditional Chinese Medicine
基 金:国家自然科学基金资助项目(No.30701120)
摘 要:目的从流行病学角度研究Leber遗传性视神经病变(LHON)的中医体质分型,探讨LHON发病与体质的关系。方法对83个不同家系的LHON患者进行追踪随访,收集873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,完成690例母系成员体质类型调查以及100例对照组患者的体质类型研究。结果 83个家系690名母系成员中总外显率为22.90%(158/690),男、女外显率分别为33.63%和12.89%。经过平均214.51月的随访,39.87%(63/158)患者视力恢复至0.3~1.5,男性和女性的视力恢复率分别为28.57%(32/112)和67.39%(31/46)。对LHON组与对照组中不同体质类型所占比例以及发病组与未发病组中不同体质类型所占比例进行卡方分析,平和质、阴虚质和气郁质3种体质类型的分布有统计学意义,LHON组及发病组中平和质的比例均降低,阴虚质和气郁质比例均增高。结论 LHON临床特征典型,视力预后与突变位点类型密切相关。体质类型与LHON发病相关,当平和质向其他体质类型,尤其是阴虚质和气郁质转化时,容易发病。Objective To study the TCM constitutional types of Leber hereditary optic neuropathy (LHON) from the angle of epidemiology, and explore the relationship between LHON and constitutional types. Methods The patients with LHON (n = 83 ) from different families were followed up, and clinical data was collected from matrilineal relatives in 873 case for drawing family tree. The survey on constitutional types in matrilineal numbers of 690 cases and 100 control cases were carried out by applying Constitution in Chinese Medicine Questionnaire (CCMQ). Results The total penetrance was 22.9% (158/690) in matrilineal numbers of 690 cases from 83 families, and 33.63% in the male and 12.89% in the female. After following up for average 214.51 months, the vision recovered to 0.3 - 1.5 in 39.9% (63/158) patients, and the recovery rate was 28.57% (32/112) in the male and 69.57% (31/46) in the female. The Chi-square analysis on the proportion of different constitutional types in LHON group and control group or in disease group and non-disease group showed that the distribution of normal constitution, yin deficiency constitution and qi depression constitution had statistical significance. The proportion of normal constitution decreased and proportion of yin deficiency constitution and qi depression constitution increased in LHON group and disease group. Conclusion The clinical features of LHON are typical, and vision prognosis is closely related to mutation types. The constitutional types are correlated to the attack of LHON. When normal constitution transforms to other constitutional types, especially yin deficiency constitution and qi depression constitution, LHON is easily to come on.
关 键 词:LEBER遗传性视神经病变 分子生物学 流行病学 中医体质
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