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dc.contributor.author Kerti, Andrea
dc.contributor.author Csohány, Rózsa
dc.contributor.author Szabó, Attila
dc.contributor.author Arkossy O
dc.contributor.author Sallay, Péter
dc.contributor.author Moriniere V
dc.contributor.author Vega-Warner V
dc.contributor.author Nyírő, Gábor
dc.contributor.author Lakatos, Orsolya Judit
dc.contributor.author Szabó, Tamás
dc.contributor.author Lipska BS
dc.contributor.author Schaefer F
dc.contributor.author Antignac C
dc.contributor.author Reusz, György
dc.contributor.author Tulassay, Tivadar
dc.contributor.author Tory, Kálmán
dc.date.accessioned 2015-01-16T12:26:28Z
dc.date.available 2015-01-16T12:26:28Z
dc.date.issued 2013
dc.identifier 84880572908
dc.identifier.citation pagination=751-757; journalVolume=28; journalIssueNumber=5; journalTitle=PEDIATRIC NEPHROLOGY;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/1038
dc.identifier.uri doi:10.1007/s00467-012-2379-2
dc.description.abstract BACKGROUND: The most frequently mutated gene of steroid- resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood- onset SRNS. METHODS: A cohort of 38 Hungarian patients with childhood-onset nephrotic-range proteinuria was screened for NPHS2 mutations. The frequency of the p.V290M mutation in late- onset SRNS was examined in the French and PodoNet cohorts. RESULTS: Of the 38 Hungarian patients screened, seven carried NPHS2 mutations on both alleles, of whom two-diagnosed with proteinuria through school screening programs at the age of 9.7 and 14 years, respectively-did not develop nephrotic syndrome in childhood. The first, an 18-year-old boy, homozygous for p.V290M, has never developed edema. The second, a 31-year-old woman-compound heterozygous for p.V290M and p.R138Q-was first detected with hypoalbuminemia (<30 g/l) and edema at the age of 24.3 and 27.5 years, respectively. Both patients currently have a normal glomerular filtration rate. The mutation p.V290M was carried by three of the 38 patients in the Hungarian cohort, by two of the 95 patients with late-onset SRNS in the PodoNet cohort and by none of the 83 patients in the French cohort. CONCLUSIONS: We propose that not only the p.R229Q variant, but also the p.V290M mutation should be screened in Central and Eastern European patients with late-onset SRNS.
dc.relation.ispartof urn:issn:0931-041X
dc.title NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
dc.type Journal Article
dc.date.updated 2015-01-13T13:25:57Z
dc.language.rfc3066 en
dc.identifier.mtmt 2167718
dc.identifier.wos 000316571400010
dc.identifier.pubmed 23242530
dc.contributor.department SE/AOK/K/I. Sz. Gyermekgyógyászati Klinika
dc.contributor.department Pécsi Tudományegyetem
dc.contributor.department SE/AOK/I/Genomikai Medicina és Ritka Betegségek Intézete
dc.contributor.institution Semmelweis Egyetem
dc.contributor.institution Pécsi Tudományegyetem


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