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Article

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

Clinical and experimental nephrology - 1 Aug 2017

Suvanto Maija, Patrakka Jaakko, Jahnukainen Timo, Sjöström Pia-Maria, Nuutinen Matti, Arikoski Pekka, Kataja Janne, Kestilä Marjo, Jalanko Hannu

Abstract excerpt

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a common cause of end-stage renal disease in children but also occurs as an adult-onset condition. In a subset of SRNS patients, pathogenic variants are found in genes coding for podocyte foot process proteins. The aim of this study was to define the role of pathogenic variants in Finnish patients with familial and sporadic SRNS. METHODS: We analyzed...

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Source

Identifiers

PMID: 27573339
DOI: 10.1007/s10157-016-1331-3

Genes

NPHS2
ACTN4
INF2
LAMB2
NPHS1
PLCE1
TRPC6

Variants

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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Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.PMID 27573339Read ↗

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