Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

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dc.contributor.authorMachuca, Eduardo
dc.contributor.authorHummel, Aurelie
dc.contributor.authorNevo, Fabien
dc.contributor.authorDantal, Jacques
dc.contributor.authorMartinez, Frank
dc.contributor.authorAl Sabban, Essam
dc.contributor.authorBaudouin, Veronique
dc.contributor.authorAbel, Laurent
dc.contributor.authorGruenfeld, Jean Pierre
dc.contributor.authorAntignac, Corinne
dc.date.accessioned2024-01-10T13:46:50Z
dc.date.available2024-01-10T13:46:50Z
dc.date.issued2009
dc.description.abstractMutations of NPHS2, encoding podocin, are the main cause of autosomal recessive steroid-resistant nephrotic syndrome (NS) presenting in childhood. Adult-onset steroid-resistant NS has been described in patients heterozygous for a pathogenic NPHS2 mutation together with the p.R229Q variant. To determine the frequency and the phenotype of patients carrying the p.R229Q variant, we sequenced the complete coding region of NPHS2 in 455 families (546 patients) non-responsive to immunosuppressive therapy or without relapse after transplantation. Among affected Europeans, the p.R229Q allele was significantly more frequent compared to control individuals. Thirty-six patients from 27 families (11 families from Europe and 14 from South America) were compound heterozygotes for the p.R229Q variant and one pathogenic mutation. These patients had significantly later onset of NS and end stage renal disease than patients with two pathogenic mutations. Among 119 patients diagnosed with NS presenting after 18 years of age, 18 patients were found to have one pathogenic mutation and p.R229Q, but none had two pathogenic mutations. Our study shows that compound heterozygosity for p.R229Q is associated with adult-onset steroid-resistant NS, mostly among patients of European and South American origin. Screening for the p.R229Q variant is recommended in these patients, along with further NPHS2 mutation analysis in those carrying the variant.
dc.description.funderProgramme Hospitalier de Recherche Clinique
dc.description.funderProgramme Maladies Rares INSERM/Association Francaise contre les Myopathies
dc.description.funderAssociation pour l'utilisation du Rein Artificiel (AURA)
dc.description.funderSociedad Medica de Chile-SAVAL
dc.fechaingreso.objetodigital2024-05-02
dc.format.extent9 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1038/ki.2008.650
dc.identifier.eissn1523-1755
dc.identifier.issn0085-2538
dc.identifier.pubmedidMEDLINE:19145239
dc.identifier.urihttps://doi.org/10.1038/ki.2008.650
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/79206
dc.identifier.wosidWOS:000264178100010
dc.information.autorucMedicina;Machuca E ;S/I;152757
dc.issue.numero7
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final735
dc.pagina.inicio727
dc.publisherELSEVIER SCIENCE INC
dc.revistaKIDNEY INTERNATIONAL
dc.rightsacceso restringido
dc.subjectFSGS
dc.subjectNPHS2
dc.subjectpodocin
dc.subjectsteroid-resistant nephrotic syndrome
dc.subjectFOCAL SEGMENTAL GLOMERULOSCLEROSIS
dc.subjectGLOMERULAR-FILTRATION-RATE
dc.subjectSEVERE RENAL-DISEASE
dc.subjectPODOCIN MUTATIONS
dc.subjectLATE-ONSET
dc.subject1ST YEAR
dc.subjectPROTEIN
dc.subjectPREDICTION
dc.subjectINTERACTS
dc.subjectCHILDREN
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleClinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
dc.typeartículo
dc.volumen75
sipa.codpersvinculados152757
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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