甘露糖结合凝集素的基因多态性与复发性肾病综合征的关系

目的：探讨甘露糖结合凝集素（MBL ）的基因多态性与复发性肾病综合征的关系。方法对66例复发的肾病综合征患者和40例健康成人用序列特异性引物聚合酶链反应（SSP-PCR）和实时定量荧光聚合酶链反应分别检测MBL启动子和外显子1第54号密码子的基因多态性位点，同时采用酶联免疫吸附试验检测血清中MBL浓度。结果复发性肾病综合征患者和健康对照者中高表达MBL的基因型血清MBL浓度均高于低表达MBL的基因型，差异有统计学意义（P＜0．05）；复发的肾病综合征患者血清MBL浓度低于对照组，差异有统计学意义（P＜0．05）。复发性肾病综合征患者有前驱感染病史者，MBL的基因型低表达者多于高表达者，差异有统计学意义（P＜0．05）。结论推测MBL的基因变异导致血清MBL浓度降低，诱发感染发生，引起肾病综合征患者经常复发。

Correlation between mannose binding lectin gene polymorphism and relapsed nephrotic syndrome

Objective To investigate the relationship between mannose-binding lectin （MBL） gene polymor-phism and the recurrent nephrotic syndrome .Methods 66 cases of recurrent nephrotic syndrome patients and 40 healthy adults with SSP-PCR and Real-time PCR were used to detect MBL promoter and exon 1 codon 54 polymor-phism loci ,whilst detected by ELISA in serum MBL concentration .Results Recurrent nephrotic syndrome patients and healthy controls in patients with high expression of serum MBL genotypes were higher than those with low ex-pression MBL genotypes ,the difference was statistically significant （P〈0 .05）;recurrence of nephrotic syndrome se-rum MBL concentration lower than the control group ,the difference was significant （P〈0 .05） .Recurrent nephrotic syndrome patients with a history of precursor infection ,the MBL genotypes lower expression was more than the high expression ,the difference was statistically significant （P〈0 .05） .Conclusion Gene mutation could lead to decrease of serum MBL concentration so as to be susceptible to infection ,causing nephrotic syndrome patients often relapse .