Mostrar el registro sencillo del ítem

Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium

dc.rights.licenseopenen_US
dc.contributor.authorMETRY, Elisabeth L.
dc.contributor.authorGARRELFS, Sander F.
dc.contributor.authorDEESKER, Lisa J.
dc.contributor.authorACQUAVIVA, Cecile
dc.contributor.authorD’AMBROSIO, Viola
dc.contributor.authorBACCHETTA, Justine
dc.contributor.authorBECK, Bodo B.
dc.contributor.authorCOCHAT, Pierre
dc.contributor.authorCOLLARD, Laure
dc.contributor.authorHOGAN, Julien
dc.contributor.authorFERRARO, Pietro Manuel
dc.contributor.authorFRANSSEN, Casper F. M.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorHARAMBAT, Jerome
dc.contributor.authorHULTON, Sally-Anne
dc.contributor.authorLIPKIN, Graham W.
dc.contributor.authorMANDRILE, Giorgia
dc.contributor.authorMARTIN-HIGUERAS, Cristina
dc.contributor.authorMOHEBBI, Nilufar
dc.contributor.authorMOOCHHALA, Shabbir H.
dc.contributor.authorNEUHAUS, Thomas J.
dc.contributor.authorPRIKHODINA, Larisa
dc.contributor.authorSALIDO, Eduardo
dc.contributor.authorTOPALOGLU, Rezan
dc.contributor.authorOOSTERVELD, Michiel J. S.
dc.contributor.authorGROOTHOFF, Jaap W.
dc.contributor.authorPETERS-SENGERS, Hessel
dc.date.accessioned2023-12-11T12:14:01Z
dc.date.available2023-12-11T12:14:01Z
dc.date.issued2023-10
dc.identifier.issn2468-0249en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/186544
dc.description.abstractEnINTRODUCTION: Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.Gly170Arg) AGXT variant, which imparts a relatively favorable outcome, little is known about determinants of kidney failure. Identifying these is crucial for disease management, especially in this era of new therapies. METHODS: In this retrospective study of 932 patients with PH1 included in the OxalEurope registry, we analyzed genotype-phenotype correlations as well as the impact of nephrocalcinosis, urolithiasis, and urinary oxalate and glycolate excretion on the development of kidney failure, using survival and mixed model analyses. RESULTS: The risk of developing kidney failure was the highest for 175 vitamin-B6 unresponsive ("null") homozygotes and lowest for 155 patients with c.508G>A and c.454T>A (p.Phe152Ile) variants, with a median age of onset of kidney failure of 7.8 and 31.8 years, respectively. Fifty patients with c.731T>C (p.Ile244Thr) homozygote variants had better kidney survival than null homozygotes (P = 0.003). Poor outcomes were found in patients with other potentially vitamin B6-responsive variants. Nephrocalcinosis increased the risk of kidney failure significantly (hazard ratio [HR] 3.17 [2.03-4.94], P < 0.001). Urinary oxalate and glycolate measurements were available in 620 and 579 twenty-four-hour urine collections from 117 and 87 patients, respectively. Urinary oxalate excretion, unlike glycolate, was higher in patients who subsequently developed kidney failure (P = 0.034). However, the 41% intraindividual variation of urinary oxalate resulted in wide confidence intervals. CONCLUSION: In conclusion, homozygosity for AGXT null variants and nephrocalcinosis were the strongest determinants for kidney failure in PH1.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enKidney failure
dc.subject.enNephrocalcinosis
dc.subject.enPrimary hyperoxaluria
dc.subject.enUrinary glycolate
dc.subject.enUrinary oxalate
dc.subject.enUrolithiasis
dc.title.enDeterminants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium
dc.title.alternativeKidney Int Repen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1016/j.ekir.2023.07.025en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed37849991en_US
bordeaux.journalKidney International Reportsen_US
bordeaux.page2029-2042en_US
bordeaux.volume8en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-04335476
hal.version1
hal.date.transferred2023-12-11T12:14:06Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Kidney%20International%20Reports&amp;rft.date=2023-10&amp;rft.volume=8&amp;rft.issue=10&amp;rft.spage=2029-2042&amp;rft.epage=2029-2042&amp;rft.eissn=2468-0249&amp;rft.issn=2468-0249&amp;rft.au=METRY,%20Elisabeth%20L.&amp;GARRELFS,%20Sander%20F.&amp;DEESKER,%20Lisa%20J.&amp;ACQUAVIVA,%20Cecile&amp;D%E2%80%99AMBROSIO,%20Viola&amp;rft.genre=article


Archivos en el ítem

Thumbnail
Nombre:
BPH_ KidneyIntRep_2023_Metry.pdf
Tamaño:
2.269Mb
Formato:
PDF
Ver/Abrir
Thumbnail
Nombre:
license_rdf
Tamaño:
914bytes
Formato:
application/rdf+xml
Ver/Abrir

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

Mostrar el registro sencillo del ítem