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dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorDamianou, Loukasen
dc.contributor.authorNeocleous, Vassosen
dc.contributor.authorZouvani, Ioannaen
dc.contributor.authorChristodoulidou, Staloen
dc.contributor.authorHadjiconstantinou, Valsamakis E.en
dc.contributor.authorIoannou, Kyriakosen
dc.contributor.authorAthanasiou, Yiannisen
dc.contributor.authorPatsias, Charalambosen
dc.contributor.authorAlexopoulos, Efstathiosen
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorKyriacou, Kyriacos C.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:51Z
dc.date.available2019-11-04T12:52:51Z
dc.date.issued2007
dc.identifier.issn1046-6673
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53439
dc.description.abstractMutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria and chronic renal failure rarely. Here we report our observations of 116 subjects from 13 Cypriot families clinically affected with thin basement membrane nephropathy. These families first came to our attention because they segregated microscopic hematuria, mild proteinuria, and variable degrees of renal impairment, but a dual diagnosis of focal segmental glomerulosclerosis (FSGS) and thin basement membrane nephropathy was made in 20 biopsied cases. Molecular studies identified founder mutations in both COL4A3 and COL4A4 genes in 10 families. None of 82 heterozygous patients had any extrarenal manifestations, supporting the diagnosis of thin basement membrane nephropathy. During follow-up of up to three decades, 31 of these 82 patients (37.8%) developed chronic renal failure and 16 (19.5%) reached end-stage renal disease. Mutations G1334E and G871C were detected in seven and three families, respectively, and were probably introduced by founders. We conclude that these particular COL4A3/COL4A4 mutations either predispose some patients to FSGS and chronic renal failure, or that thin basement membrane nephropathy sometimes coexists with another genetic modifier that is responsible for FSGS and progressive renal failure. The findings presented here do not justify the labelling of thin basement membrane nephropathy as a benign condition with excellent prognosis. Copyright © 2007 by the American Society of Nephrology.en
dc.sourceJournal of the American Society of Nephrologyen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-35848944448&doi=10.1681%2fASN.2007040444&partnerID=40&md5=0985ec75270cdeda24224bcba28d1e7f
dc.subjectCyprusen
dc.subjectarticleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectadulten
dc.subjectcontrolled studyen
dc.subjectfemaleen
dc.subjectMiddle Ageden
dc.subjectpriority journalen
dc.subjecthuman tissueen
dc.subjectmaleen
dc.subjectgeneen
dc.subjectgelatinase Aen
dc.subjectAutoantigensen
dc.subjecthematuriaen
dc.subjectkidney diseaseen
dc.subjectproteinuriaen
dc.subjectgenetic predispositionen
dc.subjectgene mutationen
dc.subjectMutationen
dc.subjectCohort Studiesen
dc.subjectkidney failureen
dc.subjectDNA sequenceen
dc.subjectgene locusen
dc.subjectCollagen Type IVen
dc.subjectfounder effecten
dc.subjectKidney Failure, Chronicen
dc.subjectkidney biopsyen
dc.subjectPedigreeen
dc.subjectLinkage (Genetics)en
dc.subjectfocal glomerulosclerosisen
dc.subjectGlomerular Basement Membraneen
dc.subjectGlomerulosclerosis, Focal Segmentalen
dc.subjectbasement membraneen
dc.subjectcol4a3 geneen
dc.subjectcol4a4 geneen
dc.titleCOL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathyen
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1681/ASN.2007040444
dc.description.volume18
dc.description.startingpage3004
dc.description.endingpage3016
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :82</p>en
dc.source.abbreviationJ.Am.Soc.Nephrol.en


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