Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis

G Caridi, R Bertelli, A Carrea, M Di Duca… - Journal of the …, 2001 - journals.lww.com
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 …

Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome

B Hinkes, C Vlangos, S Heeringa… - Journal of the …, 2008 - journals.lww.com
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-
resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype …

NPHS2 variation in sporadic focal segmental glomerulosclerosis

LM McKenzie, SL Hendrickson, WA Briggs… - Journal of the …, 2007 - journals.lww.com
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 …

[HTML][HTML] NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

H Tsukaguchi, A Sudhakar, TC Le… - The Journal of …, 2002 - Am Soc Clin Investig
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 …

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis

N He, A Zahirieh, Y Mei, B Lee… - Clinical Journal of the …, 2007 - journals.lww.com
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 …

Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin

R Bertelli, F Ginevri, G Caridi, M Dagnino… - American Journal of …, 2003 - Elsevier
BACKGROUND:: Posttransplant recurrence of focal segmental glomerulosclerosis (FSGS)
occurs in a relevant proportion of FSGS patients and represents an important clinical …

Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children

Y Frishberg, C Rinat, O Megged… - Journal of the …, 2002 - journals.lww.com
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 …

[HTML][HTML] Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

E Machuca, A Hummel, F Nevo, J Dantal, F Martinez… - Kidney international, 2009 - Elsevier
Mutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-
resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS …

Broadening the spectrum of diseases related to podocin mutations

G Caridi, R Bertelli, M Di Duca, M Dagnino… - Journal of the …, 2003 - journals.lww.com
A total of 179 children with sporadic nephrotic syndrome were screened for podocin
mutations: 120 with steroid resistance, and 59 with steroid dependence/frequent relapses …

[HTML][HTML] NPHS2variation in focal and segmental glomerulosclerosis

SJ Tonna, A Needham, K Polu, A Uscinski, GB Appel… - BMC nephrology, 2008 - Springer
Background Focal and segmental glomerulosclerosis (FSGS) is the most common histologic
pattern of renal injury seen in adults with idiopathic proteinuria. Homozygous or compound …