Genetic screening in adolescents with steroid-resistant nephrotic syndrome

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dc.contributor.authorLipska B.S.
dc.contributor.authorIatropoulos P.
dc.contributor.authorMaranta R.
dc.contributor.authorCaridi G.
dc.contributor.authorOzaltin F.
dc.contributor.authorAnarat A.
dc.contributor.authorBalat A.
dc.contributor.authorGellermann J.
dc.contributor.authorTrautmann A.
dc.contributor.authorErdogan O.
dc.contributor.authorSaeed B.
dc.contributor.authorEmre S.
dc.contributor.authorBogdanovic R.
dc.contributor.authorAzocar M.
dc.contributor.authorBalasz-Chmielewska I.
dc.contributor.authorBenetti E.
dc.contributor.authorCaliskan S.
dc.contributor.authorMir S.
dc.contributor.authorMelk A.
dc.contributor.authorErtan P.
dc.contributor.authorBaskin E.
dc.contributor.authorJardim H.
dc.contributor.authorDavitaia T.
dc.contributor.authorWasilewska A.
dc.contributor.authorDrozdz D.
dc.contributor.authorSzczepanska M.
dc.contributor.authorJankauskiene A.
dc.contributor.authorHiguita L.M.S.
dc.contributor.authorArdissino G.
dc.contributor.authorOzkaya O.
dc.contributor.authorKuzma-Mroczkowska E.
dc.contributor.authorSoylemezoglu O.
dc.contributor.authorRanchin B.
dc.contributor.authorMedynska A.
dc.contributor.authorTkaczyk M.
dc.contributor.authorPeco-Antic A.
dc.contributor.authorAkil I.
dc.contributor.authorJarmolinski T.
dc.contributor.authorFirszt-Adamczyk A.
dc.contributor.authorDusek J.
dc.contributor.authorSimonetti G.D.
dc.contributor.authorGok F.
dc.contributor.authorGheissari A.
dc.contributor.authorEmma F.
dc.contributor.authorKrmar R.T.
dc.contributor.authorFischbach M.
dc.contributor.authorPrintza N.
dc.contributor.authorSimkova E.
dc.contributor.authorMele C.
dc.contributor.authorMarco Ghiggeri G.
dc.contributor.authorSchaefer F.
dc.date.accessioned2024-07-22T08:19:08Z
dc.date.available2024-07-22T08:19:08Z
dc.date.issued2013
dc.description.abstractGenetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent cohort of the international PodoNet registry to develop a rational screening approach based on 227 patients with nonsyndromic steroid-resistant nephrotic syndrome aged 10-20 years. Of these, 21% had a positive family history. Autosomal dominant cases were screened for WT1, TRPC6, ACTN4, and INF2 mutations. All other patients had the NPHS2 gene screened, and WT1 was tested in sporadic cases. In addition, 40 sporadic cases had the entire coding region of INF2 tested. Of the autosomal recessive and the sporadic cases, 13 and 6%, respectively, were found to have podocin-associated nephrotic syndrome, and 56% of them were compound heterozygous for the nonneutral p.R229Q polymorphism. Four percent of the sporadic and 10% of the autosomal dominant cases had a mutation in WT1. Pathogenic INF2 mutations were found in 20% of the dominant but none of the sporadic cases. In a large cohort of adolescents including both familial and sporadic disease, NPHS2 mutations explained about 7% and WT1 4% of cases, whereas INF2 proved relevant only in autosomal dominant familial disease. Thus, screening of the entire coding sequence of NPHS2 and exons 8-9 of WT1 appears to be the most rational and cost-effective screening approach in sporadic juvenile steroid-resistant nephrotic syndrome. © 2013 International Society of Nephrology.
dc.identifier.DOI-ID10.1038/ki.2013.93
dc.identifier.issn00852538
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/17551
dc.language.isoEnglish
dc.publisherNature Publishing Group
dc.rightsAll Open Access; Bronze Open Access
dc.subjectcyclosporin A
dc.subjectnephrin
dc.subjectsteroid
dc.subjectWT1 protein
dc.subjectadolescent
dc.subjectadult
dc.subjectage distribution
dc.subjectarticle
dc.subjectautosomal dominant disorder
dc.subjectautosomal recessive disorder
dc.subjectbinding site
dc.subjectchild
dc.subjectconsanguineous marriage
dc.subjectcontrolled study
dc.subjectdisease duration
dc.subjectDNA extraction
dc.subjectDNA polymorphism
dc.subjectethnicity
dc.subjectexon
dc.subjectfamily history
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgene sequence
dc.subjectgenetic screening
dc.subjectheterozygosity
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectkidney biopsy
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmembranoproliferative glomerulonephritis
dc.subjectminimal change glomerulonephritis
dc.subjectmissense mutation
dc.subjectmutational analysis
dc.subjectnephrotic syndrome
dc.subjectonset age
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectprotein function
dc.subjectprotein structure
dc.subjectproteinuria
dc.subjectschool child
dc.subjectsingle nucleotide polymorphism
dc.subjectTurkey (republic)
dc.titleGenetic screening in adolescents with steroid-resistant nephrotic syndrome
dc.typeArticle

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