Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
children
end-stage kidney disease
infant
infantile oxalosis
primary hyperoxaluria
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
26
01
2022
revised:
05
04
2022
accepted:
11
04
2022
entrez:
11
7
2022
pubmed:
12
7
2022
medline:
12
7
2022
Statut:
epublish
Résumé
Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset of end-stage kidney disease (ESKD) during infancy A retrospective registry study was conducted using data from the OxalEurope registry. All PH1 patients with ESKD onset at age <1 year were analyzed. We identified 95 patients born between 1980 and 2018 with infantile oxalosis. Median (interquartile range [IQR]) age at ESKD was 0.4 (0.3-0.5) year. There were 4 patients diagnosed by family screening who developed ESKD despite early diagnosis. There were 11 patients who had biallelic missense mutations associated with vitamin B6 responsiveness. Of 89 patients, 27 (30%) died at a median age of 1.4 (0.6-2.0) years (5-year patient survival of 69%). Systemic oxalosis was described in 54 of 56 screened patients (96%). First transplantation was performed at a median age of 1.7 (1.3-2.9) years. In 42 cases, this procedure was a combined liver-kidney transplantation (LKTx), and in 23 cases, liver transplantations (LTx) was part of a sequential procedure. Survival rates of both strategies were similar. Patient survival was significantly higher in patients born after 2000. Intrafamilial phenotypic variability was present in 14 families of patients with infantile oxalosis. Nearly all screened patients with infantile oxalosis developed systemic disease. Mortality is still high but has significantly improved over time and might further improve under new therapies. The intrafamilial phenotypic variability warrants further investigation.
Identifiants
pubmed: 35812297
doi: 10.1016/j.ekir.2022.04.012
pii: S2468-0249(22)01289-X
pmc: PMC9263236
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1608-1618Informations de copyright
© 2022 International Society of Nephrology. Published by Elsevier Inc.
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