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Article

NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis.

Journal of nephrology - 1 Jan 2000

Monteiro Eduardo J B, Pereira Alexandre C, Pereira Aparecido B, Krieger José E, Mastroianni-Kirsztajn Gianna

Abstract excerpt

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 glomerulosclerosis (FSGS) was the histologic diagnosis in many of the patients harboring these mutations. FSGS is a heterogeneous glomerular lesion with diverse origins and outcomes. Although mutational analysis in children permits the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16874699

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis.PMID 16874699Read ↗

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.Semantic proximity Read ↗

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Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.Semantic proximity Read ↗

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.Semantic proximity Read ↗

Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.Semantic proximity Read ↗

NPHS2 variation in focal and segmental glomerulosclerosis.Semantic proximity Read ↗

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.Semantic proximity Read ↗

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.Semantic proximity Read ↗

Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.Semantic proximity Read ↗

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