Recessive NPHS2 (podocin) mutations account for up to approximately 30% of steroid-
resistant idiopathic FSGS in children and are associated with a reduced risk for disease …

Mutations in NPHS2, the gene that encodes podocin, are well-established causes of both
familial and sporadic steroid-resistant focal segmental glomerulosclerosis (FSGS) in the …

Mutations in NPHS2, encoding podocin, have been identified in childhood onset focal and
segmental glomerulosclerosis (FSGS). The role of NPHS2 in adult disease is less well …

Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of
steroid-resistant nephrotic syndrome. As a result of a screening for these gene alterations in …

Background Mutations in the NPHS2 gene encoding the protein podocin have recently been
found in a recessive form of steroid-resistant nephrotic syndrome. Focal segmental …

Background Focal and segmental glomerulosclerosis (FSGS) is the most common histologic
pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound …

BACKGROUND:: Posttransplant recurrence of focal segmental glomerulosclerosis (FSGS)
occurs in a relevant proportion of FSGS patients and represents an important clinical …

Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia,
edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to …

NPHS2, encoding podocin, is the major gene implicated in steroid‐resistant nephrotic
syndrome. Its c. 686G> A, p. R229Q variant is the first human variant with a mutation …

Since the identification of the NPHS2 gene, which encodes podocin, several groups from
European, Middle Eastern, and North American countries have reported NPHS2 mutations …