ESPN 51th Annual Meeting

ESPN 2018


 
Clinical characterisation of Primary Hyperoxaluria using the OxalEurope collaborative registry
SANDER F. GARRELFS 1 BERND HOPPE 2 MICHIEL J.S. OOSTERVELD 1 SALLE-ANNE HULTON 4 MARIO DE MARCHI 3 PIERRE COCHAT 5 JAAP W. GROOTHOFF 1

1- 1. DEPARTMENT OF PAEDIATRIC NEPHROLOGY, EMMA CHILDRENS HOSPITAL, ACADEMIC MEDICAL CENTER, UNIVERSITY OF AMSTERDAM, AMSTERDAM, THE NETHERLANDS
2- 2. DEPARTMENT OF PAEDIATRIC NEPHROLOGY, CHILDRENS HOSPITAL OF THE UNIVERSITY OF BONN, BONN, GERMANY
3- 3. MEDICAL GENETICS UNIT, SAN LUIGI UNIVERSITY HOSPITAL, ORBASSANO, TORINO, ITALY
4- 4. DEPARTMENT OF NEPHROLOGY, BIRMINGHAM CHILDRENS HOSPITAL NHS TRUST, BIRMINGHAM, UK
5- 5. DEPARTMENT OF PAEDIATRIC NEPHROLOGY, HOSPICES CIVILS DE LYON AND UNIVERSITY DE LYON, LYON, FRANCE
 
Introduction:

The primary hyperoxalurias (PHs) are rare inherited disorders of glyoxylate metabolism characterised by an increased endogenous oxalate production, which leads to renal stone formation, nephrocalcinosis and ultimately renal failure. Once PH patients develop renal failure, systemic deposition of oxalate accelerates resulting in a life-threatening condition affecting multiple organs. PH1 is the most common and most devastating subtype. Both PH2 and PH3 are considered to be more benign than PH1, but due to the lack of previous reports, our understanding of the disease course is limited. Despite many advances in our understanding of molecular etiology, we remain unable to predict renal outcome. If, however, disease course could be predicted, patient education and therapeutic strategies could be improved. Thus, we aimed to charactarise clinical outcome for all three PH subtypes and to identify determinants of renal outcome.

Material and methods:

Retrospective review of all PH patients registered in the OxalEurope database. At this moment, the OxalEurope registry includes more than 1200 PH patients and 23 countries are involved. Data quality is protected by on-site revision of the patient files and by personal communication.

Results:

We describe the world’s largest PH cohort consisting of 101 PH2, 70 PH3 and over 1100 PH1 patients. We could not distinguish between PH-subtypes based on age of first symptom and/or magnitude of oxalate excretion. End-stage renal disease (ESRD) was reached by 64%, 25%  and 1.4% patients with PH1, PH2 and PH3 respectively. Final results, encompassing detailed clinical outcomes and correlated determinants (e.g. biochemical phenotype and genotype) will be available in the near future.

Conclusions:

Our study is the first comprehensive overview of long-term outcomes of patients with PH. PH is not a benign disease and renal impairment occurred in all three subtypes. Final results are to be presented at the October meeting.