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Pediatric Nephrology

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01.08.2015 | Original Article

Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome

verfasst von: Onur Cil, Nesrin Besbas, Ali Duzova, Rezan Topaloglu, Amira Peco-Antić, Emine Korkmaz, Fatih Ozaltin

Erschienen in: Pediatric Nephrology | Ausgabe 8/2015

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Abstract

Background

Congenital nephrotic syndrome (CNS) and infantile nephrotic syndrome (INS) are caused primarily by mutations in genes that encode structural and regulatory proteins of the glomerular filtration barrier. The aim of this study was to determine genotype–phenotype correlations and prognosis in patients with CNS and INS.

Methods

NPHS1, NPHS2, LAMB2 and the eighth and ninth exons of WT1 were sequenced in 80 and 22 patients with CNS and INS, respectively. Genotype–phenotype correlations and survival were evaluated.

Results

Causative mutations were identified in 64.7 % of patients, of which NPHS1 mutations were the most common (37.4 %). The mutation detection rate was twofold higher in CNS patients than in INS patients (72.5 vs. 36.2 %). The most commonly mutated gene in CNS patients was NPHS1 (46.3 %) versus NPHS2 (13.6 %) and WT1 (13.6 %) in INS patients. NPHS2 mutations, female patients with NPHS1 mutations, and NPHS1 mutations affecting the transmembrane or intracellular domains of nephrin were associated with longer survival.

Conclusions

Based on our present findings, the likelihood of identification of a genetic cause decreases with increasing age at diagnosis. The underlying genetic abnormality should be identified as early as possible, as this knowledge will facilitate clinicians in their prognostic prediction and enable patients to receive appropriate genetic counseling.

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Titel: Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome
verfasst von: Onur Cil
Nesrin Besbas
Ali Duzova
Rezan Topaloglu
Amira Peco-Antić
Emine Korkmaz
Fatih Ozaltin
Publikationsdatum: 01.08.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 8/2015
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-015-3058-x

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Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome