[Congenital and infantile nephrotic syndrome].

Congenital Nephrotic Syndrome: A Cases Report

Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...

Nephrotic syndrome in childhood: genotype-phenotype association studies and screening for novel mutations

..............................................................................................................................xiv Introduction ............................................................................................................................1 What is Nephrotic Syndrome? .............................................................................................1 Patho...

Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report

BACKGROUND Nephrotic syndrome is a relatively rare but serious condition in children. Infantile nephrotic syndrome often has a genetic origin; the treatment is then symptomatic, with a poor prognosis, and a rapid evolution to chronic kidney disease. However, non-genetic infantile nephrotic syndrome has been identified. Here we report for the first time in a child a nephrotic syndrome as the sol...

A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, containing the NPHS2 gene. Direct sequencing, by exon PCR, of NPHS2 identified a homozygous nucleotide c...

Long-term azathioprine therapy in two children with steroid-dependent minimal-change nephrotic syndrome. H. Tanaka, N. Onodera and S. Waga Infantile pulmonary alveolar proteinosis with interstitial pneumonia: Bilateral simultaneous lung lavage utilizing extracorporeal membrane oxygenation and steroid therapy