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目的:研究IgA肾病临床多样性产生的基因背景。方法:对103名正常人和97例IgA肾病患者IL-1受体拮抗剂(IL-1ra)和TNF-α基因的多态性进行了分析。结果:发现IL1RN·1和IL1RN·2等位基因在正常人和IgA肾病患者中的分布差异不明显。但IL1RN·2等位基因在反复发作性肉眼血尿患者中的发生率明显高于其他患者。TNF-α基因点突变的发生率在正常人为3.9%,在IgA肾病患者为1.0%。由于TNF-α基因点突变在人群中发生率很低,本文未对其进行进一步分析。结论:反复发作性肉眼血尿型IgA肾病患者在其症状发作前往往合并有上呼吸道感染,可能与IL1RN·2等位基因的高携带率有关。进一步阐明IL1RN·2等位基因与IgA肾病临床症候及预后的联系,有助于提高我们对IgA肾病本质的认识
Objective: To study the genetic background of the clinical diversity of IgA nephropathy. Methods: The polymorphisms of IL-1ra and TNF-α genes in 103 normal individuals and 97 IgA nephropathy patients were analyzed. Results: The distribution of IL1RN-1 and IL1RN-2 alleles in normal and IgA nephropathy patients was not significantly different. However, the incidence of IL1RN·2 allele in patients with recurrent hematuria was significantly higher than other patients. The incidence of point mutations in the TNF-α gene was 3.9% in normal subjects and 1.0% in patients with IgA nephropathy. Due to the low incidence of point mutations in the TNF-α gene in humans, no further analysis was performed in this article. CONCLUSIONS: Patients with recurrent hematuria in the form of gross IgA usually have upper respiratory tract infections before the onset of symptoms, which may be related to the high carrier rate of the IL1RN·2 allele. Further elucidation of the association between IL1RN·2 alleles and clinical signs and prognosis of IgA nephropathy will help us to improve our understanding of the nature of IgA nephropathy