Mostrar el registro sencillo del ítem

dc.rights.licenseopenen_US
dc.contributor.authorBAKIS, Hugo
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
dc.contributor.authorVERMOREL, Agathe
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorBELAROUSSI, Yaniss
dc.contributor.authorSCHUTZ, Sacha
dc.contributor.authorSOLE, Guilhem
hal.structure.identifierBioingénierie tissulaire [BIOTIS]
dc.contributor.authorCOMBE, Christian
ORCID: 0000-0002-0360-573X
IDREF: 58708871
hal.structure.identifierInstitut des Maladies Neurodégénératives [Bordeaux] [IMN]
dc.contributor.authorMARTIN-NEGRIER, Marie-Laure
hal.structure.identifierBioingénierie tissulaire [BIOTIS]
dc.contributor.authorRIGOTHIER, Claire
dc.date.accessioned2023-03-14T13:56:31Z
dc.date.available2023-03-14T13:56:31Z
dc.date.issued2023-01
dc.identifier.issn2048-8505 (Print) 2048-8513 (Electronic)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/172301
dc.description.abstractEnBACKGROUND: Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney functions are highly dependent on mitochondrial respiration. However, the prevalence of MID-associated nephropathies (MIDANs) is unknown in the adult population. We aimed to address this point and to provide a full characterization of MIDANs in this population. METHODS: We retrospectively included for observational study adults (≥16 years of age) with genetically diagnosed MID between 2000 and 2020 in our tertiary care academic centre when they had a chronic kidney disease (CKD) evaluation. MIDANs were ascertained by CKD occurring in MIDs. The phenotypic, biological, histopathological and genotypic characteristics were recorded from the medical charts. RESULTS: We included 80 MID-affected adults and ascertained MIDANs in 28/80 (35%). Kidney diseases under the care of a nephrologist occurred in only 14/28 (50%) of the adults with MIDAN. MIDANs were tubulointerstitial nephropathy in 14/28 patients (50%) and glomerular diseases in 9/28 (32.1%). In adults with MID, MIDAN was negatively associated with higher albumin levels {odds ratio [OR] 0.79 [95% confidence interval (CI) 0.67-0.95]} and vision abnormalities [OR 0.17 (95% CI 0.03-0.94)] and positively associated with hypertension [OR 4.23 (95% CI 1.04-17.17)]. CONCLUSION: MIDANs are frequent among adult MIDs. They are mostly represented by tubulointerstitial nephropathy or glomerular disease. Vision abnormalities, hypertension and albumin levels were independently associated with MIDANs. Our results pave the way for prospective studies investigating the prevalence of MIDANs among undetermined kidney disease populations.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.subject.enAdult
dc.subject.enGlomerular disease
dc.subject.enKidney disease
dc.subject.enMitochondrial disorders
dc.subject.enTubulointerstitial nephropathy
dc.title.enRenal involvement is frequent in adults with primary mitochondrial disorders: an observational study
dc.title.alternativeClin Kidney Jen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1093/ckj/sfac195en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed36726431en_US
bordeaux.journalClinical Kidney Journalen_US
bordeaux.page100-110en_US
bordeaux.volume16en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.institutionCNRS
bordeaux.institutionCHU de Bordeaux
bordeaux.institutionInstitut Bergonié
bordeaux.teamEPICENE_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-04028674
hal.version1
hal.date.transferred2023-03-14T13:56:34Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical%20Kidney%20Journal&rft.date=2023-01&rft.volume=16&rft.issue=1&rft.spage=100-110&rft.epage=100-110&rft.eissn=2048-8505%20(Print)%202048-8513%20(Electronic)&rft.issn=2048-8505%20(Print)%202048-8513%20(Electronic)&rft.au=BAKIS,%20Hugo&TRIMOUILLE,%20Aurelien&VERMOREL,%20Agathe&GOIZET,%20Cyril&BELAROUSSI,%20Yaniss&rft.genre=article


Archivos en el ítem

Thumbnail
Thumbnail

Este ítem aparece en la(s) siguiente(s) colección(ones)

Mostrar el registro sencillo del ítem