Antignac, Corinne

Bindels, René J.M.

Chauveau, Dominique

Devuyst, Olivier

Emma, Francesco

Gansevoort, Ron

Maxwell, Patrick H.

Ong, Albert C.M.

Remuzzi, Giuseppe

Ronco, Pierre

Schaefer, Franz

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Nephrol Dial Transplant (2012) 27: 67–69doi: 10.1093/ndt/gfr764Editorial CommentThe ERA-EDTA Working Group on inherited kidney disordersOlivier Devuyst1,2,3, Corinne Antignac4, Rene´ J.M. Bindels5, Dominique Chauveau6, Francesco Emma7,Ron Gansevoort8, Patrick H. Maxwell9, Albert C.M. Ong10, Giuseppe Remuzzi11, Pierre Ronco12 andFranz Schaefer13,141Institute of Physiology, Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland, 2Klinik fu¨rNephrologie, Universita¨tsSpital, Zurich, Switzerland, 3Division of Nephrology, UCL Medical School, Brussels, Belgium, 4INSERMU983, Hoˆpital Necker-Enfants Malades, Paris, France, 5Department of Physiology, Radboud University Nijmegen Medical Centre,Nijmegen, The Netherlands, 6Service de Ne´phrologie et Immunologie clinique, Hoˆpital Rangueil, CHU Toulouse, France, 7Division ofNephrology and Dialysis, Bambino Gesu` Children’s Hospital and Research Institute, Rome, Italy, 8Department of Nephrology,University Medical Center, University of Groningen, Groningen, The Netherlands, 9UCL Division of Medicine, University CollegeLondon, London, UK, 10Kidney Genetics Group, Academic Nephrology Unit, University of Sheffield Medical School, Sheffield, UK,11Mario Negri Institute for Pharmacological Research, Bergamo, Italy, 12Universite´ Pierre et Marie Curie, Paris 6, Assistance Publique-Hoˆpitaux de Paris, Tenon Hospital, Paris, France, 13Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine,University of Heidelberg, Germany and 14Center for Rare Diseases University Medicine Heidelberg, University of Heidelberg,GermanyCorrespondence and offprint requests to: Olivier Devuyst; E-mail: olivier.devuyst@uzh.chThe authors are listed alphabetically and all contributed equally to this work.Keywords: cystic diseases; genetics; patient organization; rare diseases;tubulopathiesWhy a Working Group on inherited kidneydisorders?Dozens of inherited diseases affect the kidney; collectively,they account for at least 10% of patients with end-stagerenal disease in Europe [1]. The underlying genetic defectsmay affect all structures and cell types of the nephron andmay therefore compromise all aspects of kidney function.In addition, extra-renal involvement is frequently associ-ated. In terms of frequency, inherited kidney disordersvary from relatively frequent diseases, such as autosomaldominant polycystic kidney disease (ADPKD, that argu-ably affects one in every 1000 person), to ‘rare’ diseasesthat, by definition, affect less than five persons in every10 000.Inherited kidney diseases concern a large number of pa-tients in Europe and have a negative impact on the qualityof life of the patients, who are often children, and of familymembers and relatives [2–5]. Most of these diseases arechronically debilitating conditions; some are life threaten-ing. Low incidence, frequent phenotypic variability, lack ofstandardized diagnostic procedures and fragmentation ofclinical and biological data (obtained mostly from smallcohorts) limit our knowledge of many inherited disorders.These limitations include not only the underlying molec-ular mechanism(s) of disease but also the natural courseand the impact of the diseases on quality of life, hamperingpossibilities to perform clinical studies and hindering pro-gress in diagnosis and treatment [6, 7]. Furthermore, thelow prevalence of such disorders implies a lack of priorityfor the pharmaceutical industry. The uneven perception ofthe impact of these diseases on the health care burden isreflected by discrepancies in public and private fundingschemes across European countries.As physicians and nephrologists, we recognize the healthcare priority represented by inherited kidney diseases in thecommunity and are committed to improving the medicaltreatment of affected individuals.Post-genomic era: need for exchange andinternational networksThe establishment of an unequivocal genetic diagnosis isessential to define the disease entity, to characterize thepathophysiology, to screen and stratify patients for observa-tional and interventional studies, to predict disease courseand outcomes and, ultimately, to improve care, follow-upand support. The past three decades have witnessed a revo-lution in molecular biology and genetics that has changedthe way we understand monogenic diseases. More recently,these changes have also impacted our perception of morecommon multigenic disorders. It is now increasingly recog-nized that genetic factors also influence most aspects of renalfunction in the general population and represent importantdeterminants for the progression of chronic renal failure inacquired kidney diseases [8–10]. Bioinformatics and The Author 2012. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.For Permissions, please e-mail: journals.permissions@oup.comtechnical advances in the post-genome era, including rapiddevelopment of next-generation sequencing technologies(e.g. exome and whole-genome sequencing, with increas-ingly refined methods to filter the identified variants) haveopened new perspectives for the diagnosis, screening andpre-symptomatic testing of Mendelian diseases. These ad-vances are paralleled by more precise in-depth phenotypingof patients and by the increasing availability of model or-ganisms, transgenic mice and cell culture systems whichprovide insights into the biological role of encoded proteinsand their involvement in disease process. Altogether, theseadvances are crucial to improve diagnostic and follow-uptests, to design new target-based therapeutics and, poten-tially, to predict response to pharmacotherapy as well asadverse drug events [5, 11].The clinical and research community at large is aware ofthe necessity to disseminate new scientific knowledge onrapid advances in technology for molecular diagnosis andon their consequences (including technical and ethical lim-itations) for the identification of single gene defects, com-plex diseases and disorders with oligogenic modes ofinheritance [12, 13]. These efforts require exchange andnetworking between patients, patient caregivers, geneti-cists, clinicians, laboratory scientists and researchers fromthe pharmaceutical industry to develop translational ap-proaches. The latter should involve complementary teamsthat are able to cover the spectrum of individual diseases interms of clinical investigations, registries, molecular diag-nosis and modelling/pathophysiology [4, 5, 14]. Patientorganizations should be involved in this effort from thestart [15]; their contribution is essential, in particular inpromoting public awareness and fostering research aimedat early diagnosis and improved treatment. In times ofbudgetary constraints, international networks are also cru-cial to avoid the fragmentation of knowledge and duplica-tion of efforts.Finally, with the identification of an increasing number ofmonogenic diseases, it has become evident that insights oninherited kidney diseases are also relevant for our funda-mental knowledge of renal physiology/biochemistry andof more common clinical problems, such as renal diseaseprogression, blood pressure control, kidney stone formationand multi-systemic involvement of renal diseases.Objectives of the Working GroupThe creation of the ERA-EDTA Working Group on In-herited Kidney Disorders (WGIKD) aims at filling a gapin European nephrology and mobilizing a critical mass ofexpertise towards the following objectives: to encourage ‘research’, on a Europe-wide scale, on thenatural history and mechanisms of inherited diseases af-fecting the kidney. These disorders include orphan neph-ropathies affecting all components of the kidney andcystic kidney disorders; to address the need for ‘epidemiology’ data and regis-tries, the necessity for earlier and more efficient ‘diag-nosis’, the identification of new ‘therapeutic targets’ andimproved and affordable care; to facilitate the ‘dissemination of knowledge’ to healthcare providers, patients and their families, patient supportgroups, health authorities and policymakers and industry; to organize ‘dedicated meetings’, in conjunction with theannual ERA-EDTA congress and on specific occasions(focus on education, ethics, policies and research pro-posals).Ultimately, disseminating knowledge, increasing aware-ness and promoting basic and clinical investigations shouldpave the way for a better global care of these disorders(Figure 1).Ongoing projectsThe activities of the ERA-EDTA WGIKD include: a dedicated symposium during the annual ERA-EDTACongress as well as during the European Society ofPediatric Nephrology; the elaboration and publication of ‘best practice’ guide-lines on selected topics of wide interest, in collaborationwith the relevant societies and the European Renal BestPractice group of the ERA-EDTA;Knowledge onInherited Kidney DisordersModelsStructure & functionDiagnosisDissemination & Networking Ethics & policy making• Improved care • Clinical trials• Relevance forcommon conditionsBiomarkers• Health care professionals• Patient groups• General population• Public & health authorities• SMEs, IndustryRegistriesTreatmentsFig. 1. Pathways of translating knowledge on inherited kidney disorders to clinical applications.68 Nephrol Dial Transplant (2012): Editorial Comment the organization of continuous medical education semi-nars in various locations in Europe, targeting local needs; the support of research projects addressing critical issuesrelated to inherited kidney diseases (e.g. the EuroCYSTinitiative to create a European cohort of patients withADPKD); the support for registries, cohorts and recruitment of de-fined patient groups, and the diffusion of knowledge andsupport at a local level.These activities, as well as specific announcements andrelevant informations, will be posted regularly on the web-site (http://www.era-edta.org/wgikd/ERA-EDTA_working_group_on_Inherited_kidney_disorders.htm).Active communication between the Working Group, or-ganizations involved in strategic programmes on rare/inherited kidney diseases, patient support groups and adultand paediatric nephrology societies in Europe is ongoing.MembershipThe establishment of the ERA-EDTA WGIKD offers theopportunity to gather individuals concerned by all types ofinherited nephropathies, including ADPKD (which is usu-ally not considered a rare disease by health policy makers)across Europe. The Working Group aims at fosteringexchange between adult and paediatric nephrologists, clini-cians and scientists across disciplines ranging from generalinternal medicine to urology and nephrology and geneticsand more fundamental areas of science.Core members of the Working Group are currently in-volved in several European Union (EU)-funded projectsaddressing kidney diseases (EuReGene, Genecure, EUNE-FRON, PodoNet, ESCAPE and EuroCYST), in addition tonational and international collaborative efforts in clinicaland fundamental research in inherited kidney disorders.The body of expertise available in the network shouldfacilitate a better coordination to diffuse scientific knowl-edge and raise public awareness for inherited nephropathiesin the EU, in collaboration with patient associations andpublic institutions, within the context of policies developedby the ERA-EDTA. The initial phase of the networkalready involves >50 groups, totalizing 2001 participantsfrom all across Europe.Enrolment in the Working Group is free and easythrough the ERA-EDTA website (see above) or by sendingan email to wgikd@era-edta.org.Conflict of interest statement. None declared.References1. ERA-EDTA Registry. Annual Report 2009. Amsterdam: AcademicMedical Center, Department of Medical Informatics, 20112. Scheinman SJ, Guay-Woodford LM, Thakker RV et al. Genetic dis-orders of renal electrolyte transport. N Engl J Med 1999; 340:1177–11873. Gru¨nfeld JP. Monogenic renal diseases: a clinical introduction.J Nephrol 2002; 15: S43–S464. Devuyst O, Meij I, Jeunemaitre X et al. EUNEFRON, the EuropeanNetwork for the Study of Orphan Nephropathies. Nephrol Dial Trans-plant 2009; 24: 2011–20155. Ong ACM, Devuyst O. Towards the integration of genetic knowledgeinto clinical practice. Nephron Clin Pract 2011; 118: c3–c86. Ayme´ S, Schmidtke J. Networking for rare diseases: a necessity forEurope. Bundesgesundheitsblatt Gesundheitsforschung Gesundheits-schutz 2007; 50: 1477–14837. Watson MS, Epstein C, Howell RR et al. Developing a nationalcollaborative study system for rare genetic diseases. Genet Med2008; 10: 325–3298. Ko¨ttgen A. Genome-wide association studies in nephrology research.Am J Kidney Dis 2010; 56: 743–7589. Chambers JC, Zhang W, Lord GM et al. Genetic loci influencingkidney function, chronic kidney disease. Nat Genet 2010; 42:373–37510. Bo¨ger CA, Chen MH, Tin A et al. CUBN is a gene locus for albu-minuria. J Am Soc Nephrol 2011; 22: 555–57011. Dunoyer M. Accelerating access to treatments for rare diseases. NatRev Drug Disc 2011; 10: 475–47612. Guay-Woodford LM, Knoers NV. Genetic testing: considerations forpediatric nephrologists. Semin Nephrol 2009; 29: 338–34813. Sandford R, Sedor J. Renal genetics and clinical practice: the presentand the possible. Nephron Clin Pract 2011; 118: c1–c214. Willnow TE, Antignac C, Bra¨ndli AW et al. The European RenalGenome Project: an integrated approach towards understanding thegenetics of kidney development and disease. Organogenesis 2005; 2:42–4715. Ingelfinger JR, Drazen JM. Patient organizations and research on rarediseases. N Engl J Med 2011; 364: 1670–1671Received for publication: 29.11.11; Accepted in revised form: 1.12.11Nephrol Dial Transplant (2012): Editorial Comment 69

The ERA-EDTA Working Group on inherited kidney disorders

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