NPHS2 mutations in adult patients with primary focal segmental glomerulosclerosis

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dc.contributor.authorMonteiro, Eduardo Jose Bellotto
dc.contributor.authorPereira, Alexandre C.
dc.contributor.authorPereira, Aparecido B.
dc.contributor.authorKrieger, Jose E.
dc.contributor.authorMastroianni-Kirsztajn, Gianna
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.date.accessioned2018-06-15T18:07:28Z
dc.date.available2018-06-15T18:07:28Z
dc.date.issued2006-05-01
dc.description.abstractBackground. Mutations in the NPHS2 gene encoding the protein podocin have recently been found in a recessive form of steroid-resistant nephrotic syndrome. Focal segmental glomerulosclerosis (FSGS) was the histologic diagnosis in many of the patients harboring these mutations. FSGS is a heterogeneous glomerular lesion with diverse origins and outcomes. Although mutational analysis in children permits the identification of an unresponsive group before initiating treatment, there is not much information on adult-onset patients with FSGS.Methods: We performed NPHS2 gene mutational analysis in 39 adult Brazilian patients with primary FSGS, and evaluated the clinical course of the disease and response to treatment; in addition, we performed urinary screening in 44 relatives of these patients.Results: In this group, only 1 patient (with familial FSGS) had a mutation in the NPHS2 gene with double heterozygosity. The absence of mutations in all other patients evaluated suggests its rarity in sporadic cases of adult-onset (steroid sensitive or resistant) FSGS in our population.Conclusions: Our results suggest that the analysis of the NPHS2 gene mutation is not indicated as a routine diagnostic procedure in our population for adult-onset patients with FSGS.en
dc.description.affiliationUNIFESP, Escola Paulista Med, Div Nephrol, Dept Med, BR-04023900 Sao Paulo, Brazil
dc.description.affiliationHeart Inst InCor, Lab Genet & Mol Cardiol, Sao Paulo, Brazil
dc.description.affiliationUnifespUNIFESP, Escola Paulista Med, Div Nephrol, Dept Med, BR-04023900 Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent366-371
dc.identifier.citationJournal Of Nephrology. Milan: Wichtig Editore, v. 19, n. 3, p. 366-371, 2006.
dc.identifier.issn1121-8428
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/44511
dc.identifier.wosWOS:000239093700019
dc.language.isoeng
dc.publisherWichtig Editore
dc.relation.ispartofJournal Of Nephrology
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectNPHS2en
dc.subjectpodocinen
dc.subjectFSGSen
dc.subjectfocal segmental glomerulosclerosisen
dc.subjectglomerulonephritisen
dc.titleNPHS2 mutations in adult patients with primary focal segmental glomerulosclerosisen
dc.typeinfo:eu-repo/semantics/article
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