Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant

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dc.contributor.author Feltran, Luciana S. [UNIFESP]
dc.contributor.author Varela, Patricia [UNIFESP]
dc.contributor.author Silva, Elton Dias [UNIFESP]
dc.contributor.author Veronez, Camila Lopes [UNIFESP]
dc.contributor.author Franco, Maria Carmo [UNIFESP]
dc.contributor.author Pacheco Filho, Alvaro [UNIFESP]
dc.contributor.author Camargo, Maria Fernanda [UNIFESP]
dc.contributor.author Koch Nogueira, Paulo Cesar [UNIFESP]
dc.contributor.author Pesquero, Joao Bosco [UNIFESP]
dc.date.accessioned 2020-09-01T13:21:04Z
dc.date.available 2020-09-01T13:21:04Z
dc.date.issued 2017
dc.identifier http://dx.doi.org/10.1097/TP.0000000000001846
dc.identifier.citation Transplantation. Philadelphia, v. 101, n. 12, p. 2905-2912, 2017.
dc.identifier.issn 0041-1337
dc.identifier.uri https://repositorio.unifesp.br/handle/11600/58069
dc.description.abstract Background The aims of this study were to identify the genetic mutations profile in Brazilian children with nephrotic syndrome (NS) and to determine a genotype-phenotype correlation in this disease. Methods Next-generation sequencing and mutation analysis were performed on 24 genes related to NS in a cross-sectional study involving 95 children who underwent kidney transplantation due to NS, excluding congenital cases. Results A total of 149 variants were identified in 22 of 24 sequenced genes. The mutations were classified as pathogenic, likely pathogenic, likely benign and benign per the chance of causing the disease. NPHS2 was the most common mutated gene. We identified 8 (8.4%) patients with hereditary NS and 5 (5%) patients with probably genetically caused NS. COL4A3-5 variants were found as well, but it is not clear whether they should be considered isolated FSGS or simply a misdiagnosed type of the Alport spectrum. Considering the clinical results, hereditary NS patients presented a tendency to early disease onset when compared with the other groups (P = 0.06) and time to end stage renal disease (ESRD) was longer in this group (P = 0.03). No patients from hereditary NS group had NS recurrence after transplantation. Conclusions This is the first study in children with steroid-resistant NS who underwent kidney transplantation using next-generation sequencing. Considering our results, we believe this study has shed some light to the uncertainties of genotype-phenotype correlation in NS, where several genes cooperate to produce or even to modify the course of the disease. en
dc.description.sponsorship Sao Paulo State Foundation (FAPESP)
dc.description.sponsorship PROADI-SUS/Samaritano Hospital award
dc.description.sponsorship FAPESP
dc.format.extent 2905-2912
dc.language.iso eng
dc.publisher Lippincott Williams & Wilkins
dc.relation.ispartof Transplantation
dc.rights Acesso aberto
dc.title Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant en
dc.type Artigo
dc.description.affiliation Univ Fed Sao Paulo, Dept Nephrol, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.affiliation Univ Fed Sao Paulo, Dept Biophys, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.affiliation Univ Fed Sao Paulo, Dept Pediat, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Nephrol, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Biophys, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Pediat, Escola Paulista Med, Sao Paulo, SP, Brazil
dc.description.sponsorshipID FAPESP: 2014/27198-8
dc.description.sponsorshipID PROADI-SUS: 25000.180.613/2011-11
dc.description.sponsorshipID FAPESP: 2015/25494-1
dc.identifier.doi 10.1097/TP.0000000000001846
dc.description.source Web of Science
dc.identifier.wos WOS:000416839800023
dc.coverage Philadelphia
dc.citation.volume 101
dc.citation.issue 12



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