论文部分内容阅读
目的分析散发性激素耐药型肾病综合征(SRNS)儿童足细胞基因突变及其特点。方法研究对象为30例散发性SRNS患儿和50例尿检正常的健康志愿者。采用PCR扩增NPHS1、NPHS2和CD2AP基因全部外显子及其周围的部分内含子,WT1基因外显子8和9及其周围的部分内含子;应用DNA序列直接测定法对其PCR产物进行测序。结果在10例应用激素和免疫抑制剂治疗肾病无缓解的SRNS患儿中,发现1例携带WT1基因杂合突变——1180C>T(R394W),1例携带NPHS1基因复合杂合突变——2677A>G(T893A)和*142T>C,1例携带CD2AP基因杂合突变IVS13-137G>A。在20例应用激素或免疫抑制剂治疗肾病缓解的SRNS患儿中,发现4例患儿携带NPHS1基因单杂合突变——928G>A、IVS8+30C>T、IVS21+14G>A和IVS25-23C>T,1例患儿携带CD2AP基因单杂合突变(IVS7-135G>A)。结论对激素和免疫抑制剂均耐药的SRNS患儿需进行足细胞基因突变分析。
Objective To analyze the gene mutation of podocyte in children with sporadic hormone refractory nephrotic syndrome (SRNS) and its characteristics. Methods The subjects were 30 healthy children with sporadic SRNS and 50 normal healthy volunteers. All exons of NPHS1, NPHS2 and CD2AP genes and their surrounding intron were amplified by PCR, exons 8 and 9 of exon 8 of WT1 gene and some introns around them were analyzed. The PCR products Sequencing. Results In 10 cases of SRNS children with no nephropathy treated with hormone and immunosuppressive agents, one case of WT1 gene heterozygous mutation - 1180C> T (R394W) and one case of NPHS1 gene heterozygous mutation - 2677A > G (T893A) and * 142T> C, and 1 case carried the heterozygous mutation of CD2AP gene IVS13-137G> A. Among the 20 SRNS patients who were treated with steroid or immunosuppressive agents for remission of nephropathy, 4 children were found to carry single heterozygous mutations of NPHS1 gene - 928G> A, IVS8 + 30C> T, IVS21 + 14G> A and IVS25- 23C> T, one case of CD2AP gene carrying a single heterozygous mutation (IVS7-135G> A). Conclusions Parents of SRNS patients resistant to both hormones and immunosuppressants should be analyzed for podocyte gene mutations.