Kestilä M, Männikkö M, Holmberg C, Tryggvason K, Peltonen L
Biocenter, University of Oulu, Finland.
Genomics. 1994 Feb;19(3):570-2. doi: 10.1006/geno.1994.1109.
Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disease with an incidence of 1 in 8000 in Finland. CNF is characterized by massive proteinuria and nephrotic syndrome at birth. In a recent report, deregulation of expression of the gene coding for the Pax-2 DNA-binding protein was shown to generate severe kidney abnormalities in transgenic mice resembling the clinical and pathological findings in congenital nephrotic syndrome, making it a candidate gene for CNF. However, in this study, we have unequivocally excluded the Pax-2 gene locus as a causative for congenital nephrotic syndrome of the Finnish type.
芬兰型先天性肾病综合征（CNF）是一种常染色体隐性疾病，在芬兰发病率为八千分之一。CNF的特征是出生时即出现大量蛋白尿和肾病综合征。在最近一份报告中，编码Pax - 2 DNA结合蛋白的基因表达失调在转基因小鼠中导致了严重的肾脏异常，类似于先天性肾病综合征的临床和病理表现，这使其成为CNF的一个候选基因。然而，在本研究中，我们已明确排除Pax - 2基因位点是芬兰型先天性肾病综合征的病因。
