Elke Wühl1, Karlijn J van Stralen2, Christoph Wanner3, Gema Ariceta4, James Goya Heaf5, Anna K Bjerre6, Runolfur Palsson7, Gabrielle Duneau8, Andries J Hoitsma9, Pietro Ravani10, Franz Schaefer1, Kitty J Jager2. 1. Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany. 2. ERA-EDTA Registry and ESPN/ERA-EDTA Registry, Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 3. Department of Internal Medicine I, Division of Nephrology, University of Würzburg, Würzburg, Germany. 4. Servicio de Nefrología Pediátrica y Hemodiálisis, Hospital Universitario Materno-Infantil Vall d'Hebron, Barcelona, Spain. 5. Department of Nephrology, Copenhagen University Hospital at Herlev, Herlev, Denmark. 6. Department of Pediatrics, Oslo University Hospital, Rikshospitalet, Oslo, Norway. 7. Division of Nephrology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 8. Service de Néphrologie Transplantation Dialyse, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France. 9. Department of Nephrology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands. 10. Department of Community Health Sciences, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada.
Abstract
BACKGROUND: In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare diseases within the ERA-EDTA Registry for which renal replacement therapy (RRT) is being provided and (ii) to determine the prevalence and incidence of RRT for ESRD due to rare diseases, both overall and separately for children and adults. METHODS: The Orphanet classification of rare disease was searched for rare diseases potentially causing ESRD, and these diagnosis codes were mapped to the corresponding ERA-EDTA primary renal disease codes. Thirty-one diagnoses were defined as rare diseases causing ESRD. RESULTS: From 1 January 2007 to 31 December 2011, 7194 patients started RRT for a rare disease (10.6% children). While some diseases were exclusively found in adults (e.g. Fabry disease), primary oxalosis, cystinosis, congenital anomalies of the kidney and urinary tract (CAKUT) and medullary cystic kidney disease affected young patients in up to 46%. On 31 December 2011, 20 595 patients (12.4% of the total RRT population) were on RRT for ESRD caused by a rare disease. The point prevalence was 32.5 per million age-related population in children and 152.0 in adults. Only 5.8% of these patients were younger than 20 years; however, 57.7% of all children on RRT had a rare disease, compared with only 11.9% in adults. CAKUT and focal segmental glomerulosclerosis were the most prevalent rare disease entities among patients on RRT. CONCLUSIONS: More than half of all children and one of nine adults on RRT in the ERA-EDTA Registry suffer from kidney failure due to a rare disease, potentially with a large number of additional undiagnosed or miscoded cases. Comprehensive diagnostic assessment and the application of accurate disease classification systems are essential for improving the identification and management of patients with rare kidney diseases.
BACKGROUND: In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare diseases within the ERA-EDTA Registry for which renal replacement therapy (RRT) is being provided and (ii) to determine the prevalence and incidence of RRT for ESRD due to rare diseases, both overall and separately for children and adults. METHODS: The Orphanet classification of rare disease was searched for rare diseases potentially causing ESRD, and these diagnosis codes were mapped to the corresponding ERA-EDTAprimary renal disease codes. Thirty-one diagnoses were defined as rare diseases causing ESRD. RESULTS: From 1 January 2007 to 31 December 2011, 7194 patients started RRT for a rare disease (10.6% children). While some diseases were exclusively found in adults (e.g. Fabry disease), primary oxalosis, cystinosis, congenital anomalies of the kidney and urinary tract (CAKUT) and medullary cystic kidney disease affected young patients in up to 46%. On 31 December 2011, 20 595 patients (12.4% of the total RRT population) were on RRT for ESRD caused by a rare disease. The point prevalence was 32.5 per million age-related population in children and 152.0 in adults. Only 5.8% of these patients were younger than 20 years; however, 57.7% of all children on RRT had a rare disease, compared with only 11.9% in adults. CAKUT and focal segmental glomerulosclerosis were the most prevalent rare disease entities among patients on RRT. CONCLUSIONS: More than half of all children and one of nine adults on RRT in the ERA-EDTA Registry suffer from kidney failure due to a rare disease, potentially with a large number of additional undiagnosed or miscoded cases. Comprehensive diagnostic assessment and the application of accurate disease classification systems are essential for improving the identification and management of patients with rare kidney diseases.
Authors: Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi Journal: N Engl J Med Date: 2018-12-26 Impact factor: 176.079
Authors: Giulia Bassanese; Tanja Wlodkowski; Aude Servais; Laurence Heidet; Dario Roccatello; Francesco Emma; Elena Levtchenko; Gema Ariceta; Justine Bacchetta; Giovambattista Capasso; Augustina Jankauskiene; Marius Miglinas; Pietro Manuel Ferraro; Giovanni Montini; Jun Oh; Stephane Decramer; Tanja Kersnik Levart; Jack Wetzels; Elisabeth Cornelissen; Olivier Devuyst; Aleksandra Zurowska; Lars Pape; Anja Buescher; Dieter Haffner; Natasa Marcun Varda; Gian Marco Ghiggeri; Giuseppe Remuzzi; Martin Konrad; Germana Longo; Detlef Bockenhauer; Atif Awan; Ilze Andersone; Jaap W Groothoff; Franz Schaefer Journal: Orphanet J Rare Dis Date: 2021-06-02 Impact factor: 4.123