Mutation analysis in Japanese patients with congenital and infantile nephritic syndrome

NPHS1、NPHS2、WT1、LAMB2和PLEC1基因的突变与生命第一年出现的肾病综合征有关。在日本肾病综合征儿童中，这些基因的致病突变的相对频率表现在生命的第一年是未知的。因此，我们分析了来自96个肾病综合征家庭的96例患者的所有5个基因，这些患者表现在生命的第一年。我们在88例中检测到致病突变。18例中有16例（9%）为先天性起病。3个月)和12个月。78例患者中有10例（8%）为婴儿起病；12个月)的肾病综合征可以用突变来解释。5种基因中任何一种发生致病突变的婴儿对类固醇治疗无反应；因此，可以避免不必要的治疗尝试。

Mutations in each of the NPHS1, NPHS2, WT1, LAMB2, and PLEC1 genes have been implicated in nephrotic syndrome manifesting in the first year of life. The relative frequency of causative mutations in these genes in Japanese children with nephritic syndrome manifesting in the first year of life is unknown. Therefore, we analyzed all 5 of the genes in 96 patients from 96 families with nephrotic syndrome manifesting in the first year of life. We detected disease-causing mutations in 88. 9%(16 of 18) patients with congenital onset(0. 3 months) and 12. 8%(10 of 78) patients with infantile onset(4. 12 months) of nephrotic syndrome were explained by mutations. Infants with causative mutations in any of the 5 genes do not respond to steroid treatment ; therefore, unnecessary treatment attempts can be avoided.