【摘要】 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。更多还原

【Abstract】 Objective To determine whether mannose-binding lectin (MBL) variant alleles were associated with an increased risk of relapsed child nephrotic syndrome (NS).Methods Mannose-binding lectin alleles of promoter and exon at codon 54 were genotyped by means of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and sequence specific primer-polymerase chain reaction(SSP-PCR)assay in 63 Chinese Han children with relapsed nephrotic syndrome and in 32 healthy control subjects.Serum levels of MBL were also determined by enzyme linked immunosorbent assay (ELISA).Results There was an positive correlation between haplotype LYB and mutated haplotype LYB of MBL in relapsed children NS (OR=3.66,95%CI:1.49～9.01).Serum MBL concentration was significantly higher in subjects carrying high-expression MBL genotypes than those carrying low-expression MBL genotypes(P<0.01);and serum MBL concentration was significantly lower in children with NS than that in controls(P<0.05).Moreover,the episodes of infection prior to the relapses of NS were significantly more frequent in children with low-expression MBL genotypes than in children with high-expression MBL genotypes(P<0.001).Conclusion Gene mutation can lead to decrease of serum MBL concentration so as to be susceptible to infection.This is one of the causes of relapse for child nephrotic syndrome.更多还原