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dc.contributor.authorGoodman, D Jen
dc.contributor.authorClarke, Ben
dc.contributor.authorHope, R Nen
dc.contributor.authorMiach, P Jen
dc.contributor.authorDawborn, J Ken
dc.identifier.citationAmerican Journal of Nephrology; 15(5): 442-5en
dc.description.abstractThe aetiology and pathogenesis of focal glomerulosclerosis is poorly understood and many conflicting reports suggest HLA locus associations in both familial and non-familial glomerulosclerosis. We report a family in which 4 of 5 sisters developed proteinuria, 2 with hypertension and 1 progressing to end-stage renal failure (index case). Three underwent renal biopsy which displayed characteristic features of focal glomerulosclerosis and all shared the HLA alleles HLA-A1, B8, DR3, DR7. The index case received two cadaveric renal transplants from HLA-A1, B8, DR3 donors and developed chronic rejection with no histological evidence of recurrent glomerulonephritis in either kidney. The frequency of this haplotype in the Australian dialysis and transplant population with focal glomerulosclerosis was compared to that seen in the general Australian Caucasian population and was not significantly different suggesting that the presence of the HLA alleles HLA-A1, B8, DR3, DR7 may increase the predisposition to familial glomerulosclerosis but additional factors are required for disease development and progression.en
dc.subject.otherChromosome Mappingen
dc.subject.otherFamily Healthen
dc.subject.otherGenetic Linkageen
dc.subject.otherGlomerulosclerosis, Focal Segmental.genetics.immunologyen
dc.subject.otherHLA Antigens.geneticsen
dc.subject.otherHLA-A1 Antigen.geneticsen
dc.subject.otherHLA-B8 Antigen.geneticsen
dc.subject.otherHLA-DR3 Antigen.geneticsen
dc.subject.otherHLA-DR7 Antigen.geneticsen
dc.titleFamilial focal glomerulosclerosis: a genetic linkage to the HLA locus?en
dc.typeJournal Articleen
dc.identifier.journaltitleAmerican journal of nephrologyen
dc.identifier.affiliationDepartment of Medicine, Austin Hospital, Heidelberg, Victoria, Australiaen
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