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Article

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2018

Bezdíčka Martin, Štolbová Šárka, Seeman Tomáš, Cinek Ondřej, Malina Michal, Šimánková Naděžda, Průhová Štěpánka, Zieg Jakub

Abstract excerpt

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) has a heterogeneous spectrum of monogenic causes that substantially differ among populations. The aim of this study was to analyse the genetic aetiology of SRNS in Czech and Slovak paediatric patients. METHODS: We analysed clinical data from 74 patients (38 boys) with congenital (15%), infant (14%), and childhood-onset (71%) SRNS collected from the Czech...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29869118
DOI: 10.1007/s00467-018-3950-2

Genes

NPHS2
NUP93
NPHS1
COQ2
DGKE
INF2

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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