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Article

[Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report].

Przeglad lekarski - 1 Jan 2006

Drozdz Dorota, Pietrzyk Jacek A, Wierzchowska-Słowiaczek Ewa, Sancewicz-Pach Krystyna, Antignac Corinne, Miezyński Witold

Abstract excerpt

Within recent years the number of children with focal segmental glomerulonephritis (FSGS) has increased. A significant progress in defining of molecular basis of the disease has been made. Gene mutations for nephrin, podocin, WT1, alpha-actinin 4 cause the damage of filtration barrier of glomerulus and proteinuria in consequence. A girl (S.G.) became ill at the age of 3.5, suffering form steroid-resistant...

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Source

Identifiers

PMID: 16898497

Genes

NPHS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report].PMID 16898497Read ↗

[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].Semantic proximity Read ↗

Genetic basis of nephrotic syndrome--review.Semantic proximity Read ↗

Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

[NPHS2 Mutation analysis study in children with steroid-resistant nephrotic syndrome].Semantic proximity Read ↗

Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.Semantic proximity Read ↗

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

Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Semantic proximity Read ↗

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.Semantic proximity Read ↗

Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.Semantic proximity Read ↗

NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

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

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Semantic proximity Read ↗

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