BACKGROUND Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in th...

A 3-year-old girl was presented with periorbital edema, hypertension, proteinuria, and hematuria. She recovered clinically after 9 days with normal urinalysis. During the follow-up, she developed recurrent episodes of nephrotic syndrome. The kidney biopsy revealed mild mesangial proliferation and a low dose of prednisolone could effectively control the disease.Iran J Med Sci 2005; 30(1): 38-40....

Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families w...

antiproteinuric treatment' [1]. We are pleased to answer both questions. First, it is believed that we forgot to mention a few papers. Before going into the details of the papers mentioned, we would like to stress the special hallmarks of our patient. She had infantile nephrotic syndrome, caused by nail-patella syndrome, as proven by mutation analysis, was treated exclusively with drugs interfe...

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...

BACKGROUND Pierson syndrome is typically manifested with congenital nephrotic syndrome (CNS) and peculiar ocular changes. LAMB2 was the causative gene. METHODS A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing. RESULTS Two novel mutations were identified, C757fsX767 and P141...