Universität zu Köln

Deesker, Lisa J., Garrelfs, Sander F., Mandrile, Giorgia, Oosterveld, Michiel J. S., Cochat, Pierre, Deschenes, Georges, Harambat, Jerome, Hulton, Sally-Anne, Gupta, Asheeta, Hoppe, Bernd, Beck, Bodo B., Collard, Laure, Topaloglu, Rezan ORCID: 0000-0002-6423-0927, Prikhodina, Larisa, Salido, Eduardo, Neuhaus, Thomas, Groothoff, Jaap W. and Bacchetta, Justine (2022). Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry. Kidney Int. Rep., 7 (7). S. 1608 - 1619. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

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Abstract

Introduction: Infantile oxalosis is the most severe form of primary hyperoxaluria type 1 (PH1), with onset of end-stage kidney disease (ESKD) during infancy. We aimed to analyze the outcome of these patients as our current understanding is limited owing to a paucity of reports. Methods: A retrospective registry study was conducted using data from the OxalEurope registry. All PH1 patients with ESKD onset at age <1 year were analyzed. Results: We identified 95 patients born between 1980 and 2018 with infantile oxalosis. Median (inter-quartile 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 trans-plantations (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 pre-sent in 14 families of patients with infantile oxalosis. Conclusion: 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Deesker, Lisa J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Garrelfs, Sander F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Mandrile, Giorgia UNSPECIFIED UNSPECIFIED UNSPECIFIED Oosterveld, Michiel J. S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cochat, Pierre UNSPECIFIED UNSPECIFIED UNSPECIFIED Deschenes, Georges UNSPECIFIED UNSPECIFIED UNSPECIFIED Harambat, Jerome UNSPECIFIED UNSPECIFIED UNSPECIFIED Hulton, Sally-Anne UNSPECIFIED UNSPECIFIED UNSPECIFIED Gupta, Asheeta UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoppe, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Collard, Laure UNSPECIFIED UNSPECIFIED UNSPECIFIED Topaloglu, Rezan UNSPECIFIED orcid.org/0000-0002-6423-0927 UNSPECIFIED Prikhodina, Larisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Salido, Eduardo UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuhaus, Thomas UNSPECIFIED UNSPECIFIED UNSPECIFIED Groothoff, Jaap W. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bacchetta, Justine UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-694335
DOI:	10.1016/j.ekir.2022.04.012
Journal or Publication Title:	Kidney Int. Rep.
Volume:	7
Number:	7
Page Range:	S. 1608 - 1619
Date:	2022
Publisher:	ELSEVIER SCIENCE INC
Place of Publication:	NEW YORK
ISSN:	2468-0249
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRIMARY HYPEROXALURIA TYPE-1; GENOTYPE-PHENOTYPE CORRELATION; LIVER-TRANSPLANTATION; MUTATION ANALYSIS; AGXT MUTATION; CHILDREN Multiple languages Urology & Nephrology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69433