Löwik M M, Levtchenko E N, Monnens L A H, van den Heuvel L P W J
Department of Pediatrics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
Clin Nephrol. 2003 Feb;59(2):143-6. doi: 10.5414/cnp59143.
Familial forms of steroid-resistant nephrotic syndrome with the histologic findings of focal-segmental glomerulosclerosis have frequently a genetic basis. For the non-familial forms this is still unresolved.
Ten children with non-familial steroid-resistant nephrotic syndrome along with focal-segmental glomerulosclerosis were tested for mutations in the WT-1 and NPHS2 genes.
In 1 patient, a mutation in intron 9 of the WT-1 gene and in 1 patient a heterozygous NPHS2 mutation could be detected. Both abnormalities are important for the treatment modalities and prognosis.
Additional studies will have to provide a solid basis for the recommendation of mutation analysis in non-familial steroid-resistant focal-segmental glomerulosclerosis.
具有局灶节段性肾小球硬化组织学表现的家族性类固醇抵抗性肾病综合征通常有遗传基础。对于非家族性形式，这一点仍未明确。
对10例患有非家族性类固醇抵抗性肾病综合征并伴有局灶节段性肾小球硬化的儿童进行了WT-1和NPHS2基因的突变检测。
在1例患者中检测到WT-1基因第9内含子的突变，在1例患者中检测到杂合的NPHS2突变。这两种异常情况对于治疗方式和预后都很重要。
进一步的研究必须为非家族性类固醇抵抗性局灶节段性肾小球硬化的突变分析推荐提供坚实的基础。
