地中海贫血不同类型与基因型及肾虚证候的关系  

Relationship between Different Types and Genotypes of Thalassemia and Kidney Deficiency Syndrome

作　　者：程艳玲[1] 吴志奎[1] 张新华[2] 褚娜利[1] 方素萍[1] 黄洁[2] 王文娟[3] 

机构地区：[1]中国中医科学院广安门医院,北京市100053 [2]中国人民解放军第三0三医院 [3]首都医科大学

出　　处：《中医杂志》2015年第5期414-417,共4页Journal of Traditional Chinese Medicine

基　　金：国家重点基础研究发展计划(“973”计划)(2010CB530406);国家自然科学基金(81173167)

摘　　要：目的探讨地中海贫血(简称地贫)不同类型(α-地贫、β-地贫、复合型地贫)与肾虚证候积分及基因型(纯合子、杂合子)之间的关系。方法收集地贫患者的临床资料,对患者的年龄、性别、身高、体重、民族、地贫类型、基因型,以及肾虚相关26项肾虚症状、体征进行记录,对不同地贫类型的基因型与中医肾虚症状、体征的构成比及肾虚证候积分进行比较。结果共调查299例肾虚证候地贫患者,其中α-地贫患者201例,β-地贫患者86例,复合型地贫患者12例。α-地贫基因型以--SEA/αCSα最为多见,β-地贫纯合子基因型以β41-42最为常见,杂合子基因型以β41-42/βE最为常见,其中287例非复合型地贫患者中以肾阴虚证(189例,65.85%)为多见,其次为肾精不足证(85例,29.62%)、肾阳虚证(13例,4.53%),3种肾虚证候构成比差异有统计学意义(P=0.020);287例非复合型地贫患者中,26项肾虚相关症状、体征以面色萎黄、盗汗、口唇淡白、神疲乏力、咽干、口干最为多见;不同类型地贫患者的肾虚相关症状、体征构成比及总积分差异无统计学意义(P>0.05)。结论不同类型的地贫患者,虽基因型各异,但临床均存在肾虚表现,且以肾阴虚证最为多见,以面色萎黄、盗汗、口唇淡白、神疲乏力、咽干、口干为主要临床表现。Objective To explore the relationship between different types of thalassemia （α-thalassemia, β- thalassemia, complex thalassemia） with the scores of kidney deficiency syndromes and genotypes （homozygotes, het- erozygotes）. Methods Clinical data of thalassemia patients were collected, including age, gender, height, weight, nation, type of thalassemia, genotype and 26 kidney deficiency related symptoms and signs. Different geno- types, the constituent ratio of TCM kidney deficiency symptoms and signs and kidney deficiency syndrome scores of different thalassemia types were analyzed. Results A total of 299 thalassemia patients with kidney deficiency syn- drome were included, with 201 cases of ct-thalassemia, 86 cases of β-thalassemia and 12 cases of complex thalasse- mia. SEA/αCSα was most commonly found in α-thalassemia genotypes, while 1341-42 in β-thalassemia homozygous genotype and 1341-42/13E in heterozygous genotype. In the 287 uncomplex thalassemia, 189 patients （65.85%） had kidney-yin deficiency, followed by 85 kidney-essence deficiency （29.62%） and 13 kidney-yang deficiency （4.53%）. The constituent ratio of three kidney deficiency types indicated statistical significance （P = 0. 020）. In these patients, pale yellow complexion, sweating during sleep, pale lips, lassitude, dry throat and dry mouth were the most common symptoms and signs among the 26 related symptoms. The constituent ratio of kidney deficiency related symptoms and signs of different thalassemia types showed no statistical significance （P 〉 0. 05 ）. Conclusion Though with different genotypes, all types of thalassemia showed kidney deficiency syndrome and kidney-yin deficien- cy was most commonly seen, with pale yellow complexion, sweating during sleep, pale lips, lassitude, dry throat and dry mouth as the main clinical manifestations.

关 键 词：地中海贫血 基因型 肾虚 证候调查 证候积分 

分 类 号：R259[医药卫生—中西医结合]