Fabry 病的中医症状特点与证型分布

目的探讨Fabry病的中医症状特点与证型分布规律。方法通过现场问诊和问卷调查的方式,收集179例患者的一般信息及中医症状,将患者分为男(117例)、女(62例)不同性别组,根据年龄分为未成年组(<18岁,17例)、青年组(18~45岁,131例)和中老年组(>45岁,31例),根据不同西医临床表现分为不完全经典型(100例)、完全经典型(61例)、肾脏变异型(15例)、心脏变异型(3例),探讨不同性别、不同年龄以及不同西医临床型Fabry患者的中医症状特点与证型分布规律。结果共收集了179例病例资料,年龄7~79岁,平均(34.23±12.70)岁。中医症状发生率前10位依次为:肢端疼痛或腰痛固定或刺痛(81.56%),神疲乏力(76.54%),口唇紫暗(74.86%),心烦易怒(73.74%),耳鸣耳聋(70.95%),畏寒肢冷(70.39%),无汗/少汗(67.04%),失眠多梦(64.25%),咽干口燥(57.54%),焦虑抑郁(57.54%)。中医证型分布按发生频率高低依次为:血瘀阻络证(88.83%),肝肾阴虚证(74.30%),脾肾阳虚证(73.18%),肝气郁滞证(72.63%),脾肾气虚证(72.07%),痰浊内阻证(64.80%),溺毒潴留证(60.33%),湿热内蕴证(56.98%)。男、女两组比较,男性患者面色(?)白、面色黧黑、面浮肢肿、无汗/少汗、身有溺味、皮下瘀斑瘀点、纳呆便溏、身困肢肿、血管角质瘤、肢体浮肿按之如泥、肾功能不全和蛋白尿的发生率均高于女性2倍(P<0.05),脾肾气虚证、脾肾阳虚证、肝肾阴虚证、溺毒潴留证、血瘀阻络证的发生率均为男性高于女性(P<0.05);未成年组、青年组和中老年组比较,青年组与中老年组患者中医症状如面色萎黄、乏力、身体困倦、心烦易怒、善太息、失眠多梦、口中黏腻、耳鸣耳聋、咽干口燥、胸闷心悸、肢端疼痛或腰痛固定或刺痛、肾功能不全、蛋白尿症状的发生率明显高于未成年组(P<0.05),面色黧黑、易感冒、无汗/少汗、肌肤甲错、血管角质瘤症状的发生率,青年组明显高于其他年龄组(P<0.05);腰膝酸软、尿少浮肿或夜尿频多症状,中老年组发生率高于其他年龄组(P<0.05)。脾肾气虚、肝肾阴虚、血瘀阻络、肝气郁滞、溺毒潴留证,青年组和中老年组的发生率明显高于未成年组,且肝肾阴虚证、肝气郁滞证和溺毒潴留证发生率随年龄增长呈递增趋势(P<0.05);不完全经典型各证型发生率均比完全经典型患者低,除肝气郁滞证外,差异均有统计学意义(P<0.05);完全经典型患者均有血瘀阻络证的表现,肾脏变异型患者更易出现肝气郁滞证及溺毒潴留证。结论Fabry病最常见且典型的中医证型为血瘀阻络证,主要表现为肢端疼痛或腰痛固定或刺痛;脾肾气虚证、脾肾阳虚证、肝肾阴虚证为Fabry病患者的基础证型;溺毒潴留证主要见于完全经典型和肾脏变异型Fabry病患者;各中医证型之间有交叉重叠,并与性别、年龄和西医临床型有关。

TCM Symptoms Characteristics and Syndromes Distribution of Fabry Disease

Objective To observe the traditional Chinese medicine(TCM)symptoms characteristics and regularities of syndromes distributions of Fabry disease.Methods The general information and TCM symptoms of 179 patients were collected by on-spot consultation and questionnaire survey.The cases data were divided into male(117 cases)and female(62 cases)groups with different genders.According to their ages,they were divided into children group(<18 years old,17 cases),youth group(18-45 years old,131 cases),and middle-aged and elderly group(>45 years old,31 cases).According to their clinical manifestations of Western medicine,they were divided into incomplete classic type(100 cases),complete classic type(61 cases),kidney variants type(15 cases),and heart variants type(3 cases).On those bases,the TCM symptoms characteristics and regularities of syndromes distributions of Fabry patients with different genders,ages and clinical types of Western medicine were explored in this study.Results A total of 179 cases were collected with an average age of(34.23±12.70)years(range:7-79 years).The top 10 TCM symptoms were listed as follows:limb pain or low back pain(81.56%),tiredness(76.54%),dark lips(74.86%),irritability(73.74%),tinnitus and deafness(70.95%),cold limbs(70.39%),anhidrosis/hypohidrosis(67.04%),insomnia and dreaminess(64.25%),dry throat and mouth(57.54%),anxiety and depression(57.54%)according to the frequency of occurrence from high to low.The distribution of TCM patterns were:blood stasis blocking collaterals pattern(88.83%),Gan-Shen yin deficiency pattern(74.30%),Pi-Shen yang deficiency pattern(73.18%),stagnation of Gan qi pattern(72.63%),Pi-Shen qi deficiency pattern(72.07%),phlegm turbidity internal obstruction pattern(64.80%),urinary toxin retention pattern(60.33%),damp heat pattern(56.98%).Compared with the female group,male group had two times of the occurrence of pale complexion,dark complexion,swelling on the face and limbs,anhidrosis/hypohidrosis,urinary smell,subcutaneous ecchymosis,poor appetite and loose stool,tiredness and swelling limbs,angiokeratoma,pitting edema,kidney dysfunction and proteinuria(P<0.05),and the occurrence rate of PiShen qi deficiency pattern,Pi-Shen yang deficiency pattern,Gan-Shen yin deficiency pattern,urinary toxin retention pattern,blood stasis blocking pattern were also higher than that of female group(P<0.05).Compared with the children group,the incidence of TCM symptoms such as sallow comlexion,tiredness,fatigue,irritability deep sigh,insomnia and dreaminess,greasy mouth,tinnitus and deafness,dry throat and mouth,chest tightness and palpitation,limb pain or low back pain,kidney dysfunction and proteinuria symptoms were significantly higher in the youth group and the middle-aged and elderly group(P<0.05).The incidences of dark complexion,liability to catch cold,anhidrosis/hypohidrosis,squamous and dry skin,and angiokeratoma in the youth group was significantly higher than those in other ages groups(P<0.05).The incidence of soreness and weakness of waist and knees,oliguria and edema or frequent nocturia in middle-aged and elderly group was higher than those in other ages groups(P<0.05).The incidence of PiShen qi deficiency,Gan-Shen yin deficiency,blood stasis blocking,Gan qi stagnation,and urinary toxin retention in the youth group and middle aged and elderly group were significantly higher than those of the children group,and the incidences of Gan-Shen yin deficiency,Gan qi stagnation,and urinary toxin retention increased as one grows(P<0.05).The incidence rate of each incomplete classic pattern type was lower than that of complete classic pattern type,with statistical differences except for Gan qi stagnation pattern(P<0.05).Cases of complete classic type had blood stasis,and cases of kidney variants type were more likely to have Gan qi stagnation syndrome and urinary toxin retention symptoms.Conclusions The most common and typical TCM syndrome of Fabry disease is blood stasis blocking pattern,mainly manifested as limb pain or low back pain(fixed or stabbing).Pi-Shen qi deficiency,Pi-Shen yang deficiency and Gan-Shen yin deficiency are basic patterns of Fabry disease patients.Urinary toxin retention pattern mainly occurs in patients with Fabry disease of complete classic and kidney variants types.There is overlapping between TCM patterns,and they are related to gender,age and clinical types of Western medicine.