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dc.contributor.authorMauer, Michaelen_US
dc.contributor.authorGlynn, Emilyen_US
dc.contributor.authorSvarstad, Einaren_US
dc.contributor.authorTøndel, Camillaen_US
dc.contributor.authorGubler, Marie-Claireen_US
dc.contributor.authorWest, Michaelen_US
dc.contributor.authorSokolovskiy, Alexeyen_US
dc.contributor.authorWhitley, Chesteren_US
dc.contributor.authorNajafian, Behzaden_US
dc.description.abstractBackground: Fabry disease. an X-linked deficiency of α-galactosidase A coded by the GLA gene, leads to intracellular globotriaosylceramide (GL-3) accumulation. Although less common than in males, chronic kidney disease, occurs in ~15% of females. Recent studies highlight the importance of podocyte injury in Fabry nephropathy development and progression. We hypothesized that the greater the % of podocytes with active wild-type GLA gene (due to X-inactivation of the mutant copy) the less is the overall podocyte injury. Methods: Kidney biopsies from 12 treatment-naive females with Fabry disease, ages 15 (8–63), median [range], years were studied by electron microscopy and compared with 4 treatment-naive male patients. Results: In females, 51 (13–100)% of podocytes (PC) per glomerulus had no GL-3 inclusions, this consistent with a non-Fabry podocyte phenotype (NFPC). In PC with GL-3 inclusions [Fabry podocyte phenotype (FPC)], GL-3 volume density per podocyte was virtually identical in females and males, consistent with little or no cross-correction between FPC and NFPC. %NFPC per glomerulus (%NFPC/glom) correlated with age in females (r = 0.65, p = 0.02), suggesting a survival disadvantage for FPC over time. Age-adjusted %NFPC/glom was inversely related to foot process width (FPW) (r = −0.75, p = 0.007), an indicator of PC injury. GL-3 volume density in FPC in females correlated directly with FPW. Conclusions: These findings support important relationships between podocyte mosaicism and podocyte injury in female Fabry patients. Kidney biopsy, by providing information about podocyte mosaicism, may help to stratify females with Fabry disease for kidney disease risk and to guide treatment decisions.en_US
dc.rightsAttribution CC BYeng
dc.titleMosaicism of podocyte involvement is related to podocyte injury in females with Fabry diseaseen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2014 Mauer et al
dc.source.journalPLoS ONE
dc.subject.nsiVDP::Medical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical genetics: 714eng
dc.subject.nsiVDP::Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk genetikk: 714nob

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