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Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv1-8. doi: 10.1093/ndt/gfu030.

Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.

Author information

Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
ERA-EDTA Registry and ESPN/ERA-EDTA Registry, Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Department of Internal Medicine I, Division of Nephrology, University of Würzburg, Würzburg, Germany.
Servicio de Nefrología Pediátrica y Hemodiálisis, Hospital Universitario Materno-Infantil Vall d'Hebron, Barcelona, Spain.
Department of Nephrology, Copenhagen University Hospital at Herlev, Herlev, Denmark.
Department of Pediatrics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
Division of Nephrology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Service de Néphrologie Transplantation Dialyse, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Department of Nephrology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands.
Department of Community Health Sciences, Faculty of Medicine, University of Calgary, Calgary, Alberta, Canada.



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.


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.


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.


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.


incidence; orphan disease; prevalence; rare disease; renal replacement therapy

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