Our results allowed us to assign a disease locus (SRN1) to a defined chromosomal region on 1q25-1q31, thus confirming the existence of a distinct entity of autosomal recessive nephrosis.
We examined nephrin and podocin expressions prior to the onset of proteinuria of PA nephrosis to elucidate the proteinuria induction mechanism of PA. PA nephrosis was induced by a subcutaneous single injection of 120 mg kg(-1) PA.
Rare mutations in nephrosis 2 (NPHS2), encoding podocin, are found in patients with familial and sporadic steroid-resistant nephrotic syndrome and focal segmental glomerular sclerosis.
Homozygous or compound heterozygous mutations in the podocin gene NPHS2 are found in 10-30% of pediatric cases of steroid resistant nephrosis and/or FSGS.