ESPN 53rd Annual Meeting

ESPN 2021


 
Outcome of infantile oxalosis in Europe.
Lisa J Deesker 1 Sander F Garrelfs 1 Giorgia Mandrile 5 Michiel J S Oosterveld 1 Pierre Cochat 3 Gill Rumsby 2 Georges Deschenes 4 Bernd Hoppe 6 Sally-Anne Hulton 7 Rezan Topaloglu 8 Jaap W Groothoff 1

1- DEPARTMENT OF PEDIATRIC NEPHROLOGY, EMMA CHILDRENS HOSPITAL, AMSTERDAM UMC, UNIVERSITY OF AMSTERDAM, AMSTERDAM, THE NETHERLANDS.
2- DEPARTMENT OF CLINICAL BIOCHEMISTRY, UNIVERSITY COLLEGE LONDON HOSPITALS, LONDON, UK.
3- DEPARTMENT OF PEDIATRIC NEPHROLOGY, HOSPICES CIVILS DE LYON AND UNIVERSITY DE LYON, LYON, FRANCE.
4- DEPARTMENT OF PEDIATRIC NEPHROLOGY, ROBERT DEBRÉ HOSPITAL, PARIS, FRANCE.
5- DEPARTEMENT OF CLINICAL AND BIOLOGICAL SCIENCES, MEDICAL GENETICS UNIT, S. LUIGI HOSPITAL, UNIVERSITY OF TORINO, ORBASSANO, ITALY.
6- DEPARTMENT OF PEDIATRIC NEPHROLOGY, CHILDRENS HOSPITAL OF THE UNIVERSITY OF BONN, BONN, GERMANY.
7- DEPARTMENT OF NEPHROLOGY, BIRMINGHAM CHILDRENS HOSPITAL NHS FOUNDATION TRUST, BIRMINGHAM, UK.
8- DEPARTMENT OF PEDIATRIC NEPHROLOGY AND RHEUMATOLOGY, HACETTEPE UNIVERSITY FACULTY OF MEDICINE, ANKARA, TURKEY
 
Introduction:

Infantile oxalosis is the most severe form of primary hyperoxaluria (PH), with onset of symptoms and end-stage kidney disease (ESKD) at a very young ageOur aim was to provide an overview of the course of the disease, treatment, and prognosis of this severe subgroup of PH patients as our current understanding is limited by a paucity of literature.

Material and methods:

A retrospective cohort study was conducted using data from the European registry OxalEurope. All PH patients with infantile oxalosis, defined as development of ESKD before the age of one year, were identified. 

Results:

We identified 95 patients with infantile oxalosis, all diagnosed with PH type 1. The median (interquartile range, IQR) age at ESKD was 0.35 (0.25 – 0.50) years. Five patients were diagnosed by family screening. Eleven patients were homozygous for a B6-responsive mutation and 25 were compound heterozygous. Systemic oxalosis was reported in almost all screened patients (n=54, 96%). A total of 27 patients (28%) of this cohort died, at a median (IQR) age of 1.37 (0.61 – 2.00) years. The median (IQR) age at first transplantation was 1.72 (1.30 – 2.90) years. Of these patients, 43 underwent a combined liver-kidney transplantation and 24 a liver transplantation as part of a sequential procedure. Patient survival did not differ when comparing dialysis modalities (intensive versus normal dialysis) or transplantation strategies (combined versus sequential liver-kidney transplantation). However, log-rank analysis showed a significant (p=0.002) improved patient survival in patients born after the year 2000.

Conclusions:

The clinical outcome of patients with infantile oxalosis is severe, with ESKD at a young age, development of systemic oxalate deposits, and a poor survival. However, patient survival has improved over the years and might improve further in the light of new therapeutic modalities that are on the horizon.