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NPHS2 mutation associated with recurrence of proteinuria after transplantation

dc.contributor.authorAugust, Christianen_US
dc.contributor.authorHaffner, Dieteren_US
dc.contributor.authorHildebrandt, Friedhelmen_US
dc.contributor.authorQuerfeld, Uween_US
dc.contributor.authorBilling, Heikoen_US
dc.contributor.authorMüller, Dominiken_US
dc.contributor.authorRuf, Rainer G.en_US
dc.contributor.authorLichtenberger, Anneen_US
dc.date.accessioned2006-09-11T19:26:06Z
dc.date.available2006-09-11T19:26:06Z
dc.date.issued2004-05en_US
dc.identifier.citationBilling, Heiko; Müller, Dominik; Ruf, Rainer; Lichtenberger, Anne; Hildebrandt, Friedhelm; August, Christian; Querfeld, Uwe; Haffner, Dieter; (2004). " NPHS2 mutation associated with recurrence of proteinuria after transplantation." Pediatric Nephrology 19(5): 561-564. <http://hdl.handle.net/2027.42/47824>en_US
dc.identifier.issn0931-041Xen_US
dc.identifier.issn1432-198Xen_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47824
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15015071&dopt=citationen_US
dc.description.abstractMutations in the NPHS2 gene encoding podocin are associated with steroid-resistant nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental glomerulosclerosis (FSGS). It is unclear to what extent SRNS due to NPHS2 mutations predisposes to recurrence of proteinuria/FSGS after renal transplantation (RTx). A 4-year-old girl with infantile SRNS was started on peritoneal dialysis because of end-stage renal disease due to FSGS. Mutational screening of the patient and her parents revealed a novel single nucleotide deletion in exon 8 of the NHPS2 gene (948delT), for which the patient was homozygous and her parents confirmed heterozygous asymptomatic carriers. At the age of 4.5 years the patient received a renal graft from her mother. On day 7 after RTx, the patient developed progressive proteinuria (urine protein/creatinine ratio 2.4 g/g), which responded within 1 week to prednisone pulse therapy, an increased cyclosporin A dosage, and ramipril therapy. The patient has maintained stable graft function and no further recurrence of proteinuria has been observed. In conclusion, patients with SRNS due to NPHS2 mutations are not protected from recurrence of proteinuria after RTx. The quick response to increased immunosuppression in our patient suggests an immune-mediated pathomechanism for recurrence of proteinuria.en_US
dc.format.extent215005 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlag; IPNAen_US
dc.subject.otherNephrotic Syndromeen_US
dc.subject.otherProteinuriaen_US
dc.subject.otherPodocinen_US
dc.subject.otherFocal Segmental Glomerulosclerosisen_US
dc.subject.otherMedicineen_US
dc.subject.otherNPHS2 Geneen_US
dc.titleNPHS2 mutation associated with recurrence of proteinuria after transplantationen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelPublic Healthen_US
dc.subject.hlbsecondlevelPediatricsen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Pediatrics, University of Michigan, Ann Arbor, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics, University of Michigan, Ann Arbor, USAen_US
dc.contributor.affiliationumDepartment of Pediatrics, University of Michigan, Ann Arbor, USAen_US
dc.contributor.affiliationotherDepartment of Pediatric Nephrology, Charité Hospital, Augustenburger Platz 1, 13353 Berlin, Germanyen_US
dc.contributor.affiliationotherInstitute of Pathology, University of Münster, Germanyen_US
dc.contributor.affiliationotherDepartment of Pediatric Nephrology, Charité Hospital, Augustenburger Platz 1, 13353 Berlin, Germanyen_US
dc.contributor.affiliationotherDepartment of Pediatric Nephrology, Charité Hospital, Augustenburger Platz 1, 13353 Berlin, Germanyen_US
dc.contributor.affiliationotherDepartment of Pediatric Nephrology, Charité Hospital, Augustenburger Platz 1, 13353 Berlin, Germanyen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid15015071en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47824/1/467_2003_Article_1408.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/s00467-003-1408-6en_US
dc.identifier.sourcePediatric Nephrologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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