三个原发位点突变的Leber遗传性视神经病变中医证候及临床特点分析

Analysis of clinical characteristics and TCM syndrome on three primary mutations of Leber hereditary optic neuropathy

目的探讨临床最常见的3个原发致病基因突变导致的Leber遗传性视神经病变患者的中医证候特点和辨证规律。方法回顾分析2001年12月至2013年12月在河北省眼科医院(原邢台市眼科医院)就诊具有ND4 G11778A、ND6 T14484C、ND1 G3460A线粒体DNA突变阳性的219例Leber遗传性视神经病变先患者的中医证候特点和辨证分型,分析各证型与3个原发基因突变的关系,总结Leber遗传性视神经病变的中医证候特点和辨证规律。结果 219例患者中ND4 G11778A突变188例,ND6 T14484C突变23例,ND1 G3460A突变8例。中医辨证为肝经郁热107例,其中ND4 G11778A突变92例,ND6 T14484C突变10例,ND1 G3460A突变5例;肝郁阴虚45例,其中ND4 G11778A突变38例,ND6 T14484C突变6例,ND1G3460A突变1例;肝肾阴虚67例,其中ND4 G11778A突变58例,ND6 T14484C突变7例,ND1 G3460A突变2例。结论具有3个原发基因突变的Leber遗传性视神经病变患者发病与肝肾联系最为密切,早期以实证为主,多表现为肝经郁热;中期虚实夹杂,多表现为肝郁阴虚;晚期以虚证为主,多表现为肝肾阴虚。

OBJECTIVE To investigate the three primary pathogenic mutations in Leber hereditary optic neuropathy caused by dialectical law of medicine. METHODS Retrospectively analysed the characteristics of TCM differentiation of syndromes, the relationship between the syndromes and three primary mutations links, and summarized Leber＇ s hereditary optic neuropathy TCM law for 219 patients with ND4 G11778A, ND6 T14484C, ND1 G3460A mitochondrial DNA mutation-positive cases of Leber＇s hereditary optic neuropathy symptoms from December 2001 to December 2013 in Hebei Provincial Eye Hospital （former Xingtai City Eye Hospital）. RESULTS Among 219 cases, ND4 Gl1778A mutation was in 188 cases, ND6 T14484C mutation in 23 cases, ND1 G3460A mutation in 8 cases. Among TCM Ganjing Yurel07eases, ND4 G11778A mutation was in 93 cases, ND6 T14484C mutations in 9 cases, ND1 G3460A mutation in 5 cases; Ganyu Yinxu 45 cases, ND4 Gl1778A mutation was in 38 cases, ND6 T14484C mutations in 6 cases, ND1 G3460A mutation in 1 case; TCM for Ganshen Yinxu 67 cases, 58 cases was in the ND4 Gl1778A mutation, ND6 T14484C mutations in 7 cases, ND1 G3460A mutation in 2 cases. CONCLUSIONS With three primary mutations in patients with Leber＇s hereditary optic neuropathy TCM most closely connected with the liver and kidney, early stage showed excess syndrome, mid-term was mixed, and late stage was deficiency syndrome.