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目的探讨甘露糖结合凝集素(MBL)基因多态性与复发的儿童肾病综合征的关系。方法对63例复发的肾病综合征患儿和32例中国汉族健康儿童用序列特异性引物-多聚酶链反应法(SSP-PCR)和多聚酶链反应限制性片段长度多态性法(PCR-RFLP)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,同时用ELISA法检测血清中MBL浓度。结果复发的儿童肾病综合征MBL基因单倍型与突变单倍型LYB呈正相关〔OR=3.66,95%CI:(1.49～9.01),P<0.05〕。复发的肾病综合征患儿和健康对照儿中高表达MBL基因型者血清MBL浓度均高于低表达MBL基因型者,差异有显著性意义(P<0.01);复发的肾病综合征患儿血清MBL浓度低于对照组,差异有显著性意义(P<0.05)。低表达MBL基因型的肾病综合征患儿复发时有前驱感染史者多于高表达MBL基因型者,差异有显著性意义(P<0.001)。结论MBL基因突变引起血清MBL浓度降低,从而导致易感染,是儿童肾病综合征复发的原因之一。
Objective To investigate the relationship between mannose-binding lectin (MBL) gene polymorphism and recurrent childhood nephrotic syndrome. Methods Sixty-three children with nephrotic syndrome and 32 healthy Han children were recruited by sequence-specific primers-polymerase chain reaction (SSP-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) The polymorphisms of MBL promoter and exon 1 codon 54 were detected respectively, and the concentration of MBL in serum was detected by ELISA. Results The relapsed childhood nephrotic syndrome haplotype of MBL gene was positively correlated with the haplotype LYB (OR = 3.66, 95% CI: 1.49-9.01), P <0.05. Serum MBL concentrations were significantly higher in children with recurrent nephrotic syndrome and healthy controls than in those with low MBL genotype (P <0.01). Serum MBL in children with recurrent nephrotic syndrome The concentration was lower than the control group, the difference was significant (P <0.05). Children with nephrotic syndrome who had low expression of MBL genotype had more prodromal infection at the time of recurrence than those with high MBL genotype, the difference was significant (P <0.001). Conclusion The mutation of MBL gene leads to the decrease of serum MBL concentration, which leads to susceptibility to infection. It is one of the causes of childhood nephrotic syndrome.