Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
kidney failure
nephrocalcinosis
primary hyperoxaluria
urinary glycolate
urinary oxalate
urolithiasis
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
11
05
2023
revised:
10
07
2023
accepted:
24
07
2023
medline:
18
10
2023
pubmed:
18
10
2023
entrez:
18
10
2023
Statut:
epublish
Résumé
Primary hyperoxaluria type 1 (PH1) has a highly heterogeneous disease course. Apart from the c.508G>A (p.Gly170Arg) 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. 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 ( In conclusion, homozygosity for
Identifiants
pubmed: 37849991
doi: 10.1016/j.ekir.2023.07.025
pii: S2468-0249(23)01404-3
pmc: PMC10577369
doi:
Types de publication
Journal Article
Langues
eng
Pagination
2029-2042Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2023 International Society of Nephrology. Published by Elsevier Inc.
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