[en] 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 (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. 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.
Disciplines :
Urology & nephrology Pediatrics
Author, co-author :
Deesker, Lisa J; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC,
Garrelfs, Sander F; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC,
Mandrile, Giorgia; Medical Genetics Unit, San Luigi University Hospital, University of Torino, ; Thalassemia Center, San Luigi University Hospital, University of Torino,
Oosterveld, Michiel J S; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC,
Cochat, Pierre; Department of Pediatric Nephrology, Hospices Civils de Lyon and University de
Deschênes, Georges; Department of Pediatric Nephrology, Paris University Hospital Robert Debré,
Harambat, Jérôme; Department of Pediatrics, Pediatric Nephrology Unit, Bordeaux University
Hulton, Sally-Anne; Department of Nephrology, Birmingham Women's and Children's NHS Foundation Trust,
Gupta, Asheeta; Department of Nephrology, Birmingham Women's and Children's NHS Foundation Trust,
Hoppe, Bernd; Department of Pediatric Nephrology, Children's Hospital of the University of
Beck, Bodo B; Institute of Human Genetics, Center for Molecular Medicine Cologne, University ; Center for Rare and hereditary Kidney Disease, Cologne, University Hospital of
Collard, Laure ; Centre Hospitalier Universitaire de Liège - CHU > > Service de pédiatrie ; Pediatric Nephrology unit, Department of Pediatrics, Centre Hospitalier
Topaloglu, Rezan; Department of Pediatric Nephrology, Hacettepe University School of Medicine,
Prikhodina, Larisa; Department of Inherited and Acquired Kidney Diseases, Research and Clinical
Salido, Eduardo; Department of Pathology, Centre for Biomedical Research on Rare Diseases,
Neuhaus, Thomas; Department of Pediatrics, Children's Hospital Lucerne, Lucerne, Switzerland.
Groothoff, Jaap W; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC,
Bacchetta, Justine; Department of Pediatric Nephrology, Hospices Civils de Lyon and University de
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