Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium
| dc.rights.license | open | en_US |
| dc.contributor.author | METRY, Elisabeth L. | |
| dc.contributor.author | GARRELFS, Sander F. | |
| dc.contributor.author | DEESKER, Lisa J. | |
| dc.contributor.author | ACQUAVIVA, Cecile | |
| dc.contributor.author | D’AMBROSIO, Viola | |
| dc.contributor.author | BACCHETTA, Justine | |
| dc.contributor.author | BECK, Bodo B. | |
| dc.contributor.author | COCHAT, Pierre | |
| dc.contributor.author | COLLARD, Laure | |
| dc.contributor.author | HOGAN, Julien | |
| dc.contributor.author | FERRARO, Pietro Manuel | |
| dc.contributor.author | FRANSSEN, Casper F. M. | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | HARAMBAT, Jerome
IDREF: 110567358 | |
| dc.contributor.author | HULTON, Sally-Anne | |
| dc.contributor.author | LIPKIN, Graham W. | |
| dc.contributor.author | MANDRILE, Giorgia | |
| dc.contributor.author | MARTIN-HIGUERAS, Cristina | |
| dc.contributor.author | MOHEBBI, Nilufar | |
| dc.contributor.author | MOOCHHALA, Shabbir H. | |
| dc.contributor.author | NEUHAUS, Thomas J. | |
| dc.contributor.author | PRIKHODINA, Larisa | |
| dc.contributor.author | SALIDO, Eduardo | |
| dc.contributor.author | TOPALOGLU, Rezan | |
| dc.contributor.author | OOSTERVELD, Michiel J. S. | |
| dc.contributor.author | GROOTHOFF, Jaap W. | |
| dc.contributor.author | PETERS-SENGERS, Hessel | |
| dc.date.accessioned | 2023-12-11T12:14:01Z | |
| dc.date.available | 2023-12-11T12:14:01Z | |
| dc.date.issued | 2023-10 | |
| dc.identifier.issn | 2468-0249 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/186544 | |
| dc.description.abstractEn | INTRODUCTION: 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.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | Kidney failure | |
| dc.subject.en | Nephrocalcinosis | |
| dc.subject.en | Primary hyperoxaluria | |
| dc.subject.en | Urinary glycolate | |
| dc.subject.en | Urinary oxalate | |
| dc.subject.en | Urolithiasis | |
| dc.title.en | Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium | |
| dc.title.alternative | Kidney Int Rep | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1016/j.ekir.2023.07.025 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 37849991 | en_US |
| bordeaux.journal | Kidney International Reports | en_US |
| bordeaux.page | 2029-2042 | en_US |
| bordeaux.volume | 8 | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.issue | 10 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.team | LEHA_BPH | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-04335476 | |
| hal.version | 1 | |
| hal.date.transferred | 2023-12-11T12:14:06Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Kidney%20International%20Reports&rft.date=2023-10&rft.volume=8&rft.issue=10&rft.spage=2029-2042&rft.epage=2029-2042&rft.eissn=2468-0249&rft.issn=2468-0249&rft.au=METRY,%20Elisabeth%20L.&GARRELFS,%20Sander%20F.&DEESKER,%20Lisa%20J.&ACQUAVIVA,%20Cecile&D%E2%80%99AMBROSIO,%20Viola&rft.genre=article |
