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 …

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 …

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 …

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 …

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

Background Focal segmental glomerulosclerosis (FSGS) is still one of the common causes
of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene …

Nephrotic syndrome, characterized by edema, proteinuria, hyperlipidemia and low serum
albumin, is a manifestation of kidney disease involving the glomeruli. Nephrotic syndrome …

Steroid-resistant nephrotic syndrome (SRNS) represents a heterogeneous group of kidney
disorders that are often resistant to other immunosuppressive agents and tend to progress to …