Pietro Manuel Ferraro, Elena Levtchenko, Tanja Kersnik Levart, Jaap W. Groothoff, Olivier Devuyst, Giovanni Montini, Anja Buescher, Dario Roccatello, Justine Bacchetta, Francesco Emma, Jun Oh, Dieter Haffner, Elisabeth A.M. Cornelissen, Tanja Wlodkowski, Martin Konrad, Jack F.M. Wetzels, Natasa Marcun Varda, Gema Ariceta, Detlef Bockenhauer, Aleksandra Zurowska, Germana Longo, Augustina Jankauskiene, Aude Servais, Giuseppe Remuzzi, Ilze Andersone, Franz Schaefer, Laurence Heidet, Lars Pape, Stéphane Decramer, Giovambattista Capasso, Marius Miglinas, Gian Marco Ghiggeri, Giulia Bassanese, Atif Awan, Paediatric Nephrology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, Institut Català de la Salut, [Bassanese G, Wlodkowski T] Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany. [Servais A] Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte, Necker University Hospital, APHP, Université de Paris, Paris, France. [Heidet L] APHP, Pediatric Nephrology Unit, Centre de Référence des Maladies Rénales Héréditaires de l’Enfant et de l’Adulte (MARHEA), Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France. [Roccatello D] Nephrology and Dialysis Unit, San Giovanni Hub Hospital and Department of Clinical and Biological Sciences, University of Turin, Turin, Italy. [Emma F] Division of Nephrology, Bambino Gesù Children’s Hospital IRCCS, Rome, Italy. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, and UCL - (SLuc) Service de néphrologie
Epidemiologia; Nefrologia pediàtrica; Registre Epidemiología; Nefrología pediátrica; Registro Epidemiology; Pediatric nephrology; Registry Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. Results Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. Conclusions ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes. Open Access funding enabled and organized by Projekt DEAL. The ERKReg project was made possible by a European Union grant (Chafea #777303) within the Third Health Programme “ERN-2016—Framework Partnership Agreement 2017–2021”. Additional support was received by ERKNet within the same framework. Further support for the development of the registry was kindly provided by the ERA-EDTA Workgroup for Inherited Kidney Diseases (WGIKD).