Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry

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Deesker L. J., Garrelfs S. F., Mandrile G., Oosterveld M. J. S., Cochat P., Deschenes G., ...Daha Fazla

KIDNEY INTERNATIONAL REPORTS, cilt.7, sa.7, ss.1608-1618, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 7
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.ekir.2022.04.012
  • Dergi Adı: KIDNEY INTERNATIONAL REPORTS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.1608-1618
  • Anahtar Kelimeler: children, end-stage kidney disease, infant, infantile oxalosis, primary hyperoxaluria, PRIMARY HYPEROXALURIA TYPE-1, GENOTYPE-PHENOTYPE CORRELATION, LIVER-TRANSPLANTATION, MUTATION ANALYSIS, AGXT MUTATION, CHILDREN
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.