Samenvatting
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.
| Originele taal-2 | English |
|---|---|
| Pagina's (van-tot) | 1126-1141 |
| Aantal pagina's | 16 |
| Tijdschrift | Kidney International |
| Volume | 101 |
| Nummer van het tijdschrift | 6 |
| DOI's | |
| Status | Published - jun.-2022 |
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In: Kidney International, Vol. 101, Nr. 6, 06.2022, blz. 1126-1141.
Onderzoeksoutput › Academic › peer review
TY - JOUR
T1 - Genetics in chronic kidney disease
T2 - conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
AU - KDIGO Conference Participants
AU - Köttgen, Anna
AU - Cornec-Le Gall, Emilie
AU - Halbritter, Jan
AU - Kiryluk, Krzysztof
AU - Mallett, Andrew J.
AU - Parekh, Rulan S.
AU - Rasouly, Hila Milo
AU - Sampson, Matthew G.
AU - Tin, Adrienne
AU - Antignac, Corinne
AU - Ars, Elisabet
AU - Bergmann, Carsten
AU - Bleyer, Anthony J.
AU - Bockenhauer, Detlef
AU - Devuyst, Olivier
AU - Florez, Jose C.
AU - Fowler, Kevin J.
AU - Franceschini, Nora
AU - Fukagawa, Masafumi
AU - Gale, Daniel P.
AU - Gbadegesin, Rasheed A.
AU - Goldstein, David B.
AU - Grams, Morgan E.
AU - Greka, Anna
AU - Gross, Oliver
AU - Guay-Woodford, Lisa M.
AU - Harris, Peter C.
AU - Hoefele, Julia
AU - Hung, Adriana M.
AU - Knoers, Nine V.A.M.
AU - Kopp, Jeffrey B.
AU - Kretzler, Matthias
AU - Lanktree, Matthew B.
AU - Lipska-Ziętkiewicz, Beata S.
AU - Nicholls, Kathleen
AU - Nozu, Kandai
AU - Ojo, Akinlolu
AU - Parsa, Afshin
AU - Pattaro, Cristian
AU - Pei, York
AU - Pollak, Martin R.
AU - Rhee, Eugene P.
AU - Sanna-Cherchi, Simone
AU - Savige, Judy
AU - Sayer, John A.
AU - Scolari, Francesco
AU - Sedor, John R.
AU - Sim, Xueling
AU - Somlo, Stefan
AU - Susztak, Katalin
N1 - Funding Information: This conference was sponsored by KDIGO and supported in part by unrestricted educational grants from American Kidney Fund, AstraZeneca, Chinook Therapeutics, Natera, Otsuka, Reata Pharmaceuticals, and Sanofi. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. All Steering Committee Members contributed equally. The conference planning and the drafting and critical revision of this manuscript were performed by the Steering Committee Members, the Conference Co-Chairs, and Jennifer King, with important intellectual content contributions provided by the remaining authors. Funding Information: AK has declared receiving research support from the German Research Foundation (DFG) Project-ID 431984000 - SFB 1453. EC-LG has declared receiving research support from Agence Nationale de la Recherche and Filière Maladies Rares Rénales. RSP has declared receiving research support from the Canadian Institutes of Health Research, National Institutes of Health (NIH), and Ontario Ministry. MGS has declared being a board member for Natera; receiving consultant fees from Janssen and Maze; and research support from the NIH. AT has declared receiving fees for speakers bureaus from the University of Virginia, Division of Nephrology Grand Round. CA has declared having a patent on the NPHS2 gene encoding podocin (USOO7388O86B2) licensed to Athena Diagnostics Inc (USA). CB has declared being a board member for Medizinische Genetik Mainz and Limbach Genetics GmbH; receiving consultant fees from Alexion, Kyowa Kirin, PTC, and Sanofi; employment from Medizinische Genetik Mainz and Limbach Genetics GmbH; fees for expert testimony from Alexion, Kyowa Kirin, PTC, and Sanofi; research support from Limbach Gruppe University of Freiburg; fees for speakers bureaus from Alexion, Kyowa Kirin, PTC, and Sanofi; fees for manuscript preparation from PTC; and fees for the development of education presentations from Alexion, Kyowa Kirin, PTC, and Sanofi. AJB has declared receiving consultant fees from Horizon and fees for speakers bureaus from Natera. DB has declared receiving consultant fees from Avrobio and fees for speakers bureaus from Advicenne and Recordati. JCF has declared receiving consultant fees from AstraZeneca; research support from NovoNordisk; and fees for speakers bureaus from AstraZeneca, Merck, and NovoNordisk. KJF has declared receiving consultant fees from Akebia, Bayer, eGenesis, Gilead, Hansa BioPharma, Natera, Palladio Biosciences, Responsum CKD, Talaris Therapeutics, Travere Therapeutics, and Veloxis. NF has declared receiving research support from the NIH. MF has declared receiving research support from Kyowa Kirin and fees for speakers bureaus from AstraZeneca and Kyowa Kirin. DPG has declared receiving consultant fees from Alexion, Atlas Venture, Judo Bio, and Reata; fees for speakers bureaus from Travere Therapeutics; and being a trustee for AlportUK. RAG has declared receiving consultant fees and research support from Reata and Travere Therapeutics. DBG has declared receiving consultant fees from AstraZeneca, Gilead Sciences, Goldfinch Bio, and Gossamer Bio; employment from Actio Biosciences; and stock from Actio Biosciences, Apostle Inc., Praxis Therapeutics, and Q-State Biosciences. AG has declared receiving consultant fees from Atlas Venture, Biogen, Blackstone, Bristol Myers Squibb, Cyclerion, Goldfinch Bio, Kyn Therapeutics, Lycia Therapeutics, Maze, MPM, Novartis, Ono Pharmaceutical, Q32 Bio, and Patient Square Capital. OG has declared receiving consultant fees from Bayer AG, Boehringer Ingelheim, Codon-X Therapeutics Inc., Galapagos, Novartis, Ono Pharmaceutical Co. Ltd., Reata, Roche, and Sanofi US Services Inc./Genzyme/Regulus Therapeutics; research support from Bayer AG (Germany), Boehringer Ingelheim (Germany), German Ministry of Education and Research, and German Research Foundation; and travel expenses from AstraZeneca. LMG-W has declared receiving consultant fees from Natera and Otsuka. PCH has declared receiving consultant fees from Mitobridge, Otsuka, Regulus, and Vertex; and research support from Acceleron, Jemincare, Navitor, and Otsuka. AMH has declared being a board member for Vertex and research support from Veterans Health CSR&D Merit Grant CX001897. NVAMK has declared receiving research support from Health Holland. JBK has declared receiving research support from the NIH Intramural Research Program. MK has declared receiving consultant fees from Astellas, Janssen, and Poxel; and research support from amfAR, Angion Pharmaceuticals, AstraZeneca, Boehringer Ingelheim, Certa, the Chan Zuckerberg Initiative, Chinook, Eli Lilly, European Union Innovative Medicine Initiative, Gilead, Goldfinch Bio, Ionis Pharmaceuticals, Janssen, JDRF, Moderna, NovoNordisk, Regeneron, RenalytixAI, and Travere Therapeutics. MBL has declared receiving consultant fees from Bayer, Otsuka, Reata, and Sanofi Genzyme; and fees for speakers bureaus from Bayer, Otsuka, Reata, and Sanofi Genzyme. BSL-Z has declared receiving fees for speakers bureaus from Takeda Pharma PL and fees for the development of educational presentations from Takeda Pharma PL. KNi has declared being a board member for Amicus Australian, Sanofi Genzyme, and Takeda; receiving research support from Genzyme and Takeda; and fees for the development of educational presentations from Takeda. KNo has declared receiving fees for speakers bureaus from Daiichi Sankyo, Kyowa Kirin, and Sumitomo Dainippon Pharma. AO has declared receiving consultant fees from Vertex. YP has declared receiving consultant fees from Maze, Otsuka, Reata, and Sanofi; and fees for the development of educational presentations from Otsuka. MRP has declared being a board member for Vertex; receiving consultant fees from InxMed and Vertex, and research support from Vertex; and stock/stock options from Apolo1Bio LLC. SS-C has declared receiving fees for speakers bureaus from Travere Therapeutics. JRS has declared being a board member for Kidney X Innovation Accelerator; receiving consultant fees from Boehringer Ingelheim and Maze; and research support from Calliditas, Novartis, and Vertex. SS has declared receiving consultant fees from Goldfinch Bio and Vertex. KS has declared being a board member for Jnana; receiving consultant fees from AstraZeneca, Bayer, GSK, Jnana, Maze, Otsuka, Pfizer, and Ventus; and research support from Bayer, Boehringer Ingelheim, Gilead, GSK, Jnana, Maze, NIH, Novartis, Novo Nordisk, and Regeneron. RT has declared receiving fees for speakers bureaus from Amicus, Otsuka, Sanofi, and Takeda. AMvE has declared receiving research support from the Dutch Kidney Foundation (#18OKG19) and VriendenWKZ and being on Work Groups for ERKNet (project ID No 739532) and ERA-EDTA. CAW has declared receiving federal funds from the National Cancer Institute, NIH, under contract 75N91019D00024; and support in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. JMK has declared receiving fees for manuscript preparation Bayer Pharmaceuticals, Emergent Biosciences, and Gilead Sciences. MJ declared receiving consultant fees from Astellas, AstraZeneca, Boehringer Ingelheim, Fresenius Medical Care Asia Pacific, Mundipharma, and Vifor Fresenius Medical Care; fees for speakers bureaus from Astellas, AstraZeneca, Mundipharma, and Vifor Fresenius Medical Care; research support from Amgen; and future research support from AstraZeneca. WCW declared receiving consultant fees from Akebia/Otsuka, AstraZeneca, Bayer, Janssen, Merck, Reata, and Relypsa; future consultant fees from Boehringer Ingelheim; and research support from the NIH. AGG has declared receiving consultant fees from Actio Biosciences, Natera, Novartis, and Travere; research support from Natera and the Renal Research Institute; and fees for the development of educational presentations from Fresenius and Sanofi Genzyme. Several authors of this paper are members of the European Rare Kidney Disease Reference Network (ERKNet)—project ID No 739532. All the other authors declared no competing interests. Funding Information: 1 Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 2 Univ Brest, INSERM UMR 1078, GGB, CHU Brest, Brest, France; 3 Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany; 4 Department of Nephrology and Medical Intensive Care, Charité—Universitätsmedizin Berlin, Berlin, Germany; 5 Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA; 6 Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia; 7 Department of Nephrology, Townsville University Hospital, Townsville, Queensland, Australia; 8 College of Medicine, James Cook University, Townsville, Queensland, Australia; 9 KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia; 10 Division of Nephrology, Department of Pediatrics and Medicine, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada; 11 Division of Nephrology, Women’s College Hospital, Toronto, Ontario, Canada; 12 Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada; 13 Division of Nephrology, Boston Children’s Hospital and Harvard Medical School, Boston, Massachusetts, USA; 14 Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 15 Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; 16 Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA; 17 Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France; 18 Department of Genetics, Necker Hospital, APHP, Paris, France; 19 Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain; 20 Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; 21 Department of Nephrology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany; 22 Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA; 23 Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; 24 Department of Renal Medicine, University College London, London, UK; 25 Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; 26 Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium; 27 Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland; 28 Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 29 Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 30 Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA; 31 The Voice of the Patient, Inc., Elmhurst, Illinois, USA; 32 Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA; 33 Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, Isehara, Japan; 34 Rare Renal Disease Registry, UK Renal Registry, Bristol, UK; 35 Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA; 36 Institute for Genomic Medicine, Columbia University, New York, New York, USA; 37 Department of Genetics and Development, Columbia University, New York, New York, USA; 38 Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; 39 Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany; 40 Center for Translational Science, Children's National Health System, Washington, DC, USA; 41 Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA; 42 Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany; 43 VA Tennessee Valley Healthcare System, Division of Nephrology and Hypertension, Department of Medicine, Vanderbilt Center for Kidney Disease, Vanderbilt Precision Nephrology Program, Vanderbilt University Medical Center, Nashville, Tennessee, USA; 44 Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands; 45 Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland, USA; 46 Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA; 47 Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA; 48 Division of Nephrology, St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada; 49 Department of Medicine, McMaster University, Hamilton, Ontario, Canada; 50 Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland; 51 Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia; 52 Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; 53 University of Kansas School of Medicine, Kansas City, Kansas, USA; 54 Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA; 55 Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA; 56 Eurac Research, Institute for Biomedicine (affiliated with the University of Lübeck), Bolzano, Italy; 57 Division of Nephrology, University Health Network, Toronto, Ontario, Canada; 58 Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA; 59 Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA; 60 Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA; 61 Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, Victoria, Australia; 62 Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; 63 The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; 64 NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK; 65 Division of Nephrology, ASST Spedali Civili di Brescia, Brescia, Italy; 66 Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy; 67 Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA; 68 Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA; 69 Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, USA; 70 Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore; 71 Department of Internal Medicine, Yale University, New Haven, Connecticut, USA; 72 Department of Genetics, Yale University, New Haven, Connecticut, USA; 73 Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 74 Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; 75 Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois, USA; 76 Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, IIB-Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain; 77 Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands; 78 Alport Syndrome Foundation, Phoenix, Arizona, USA; 79 Basic Research Laboratory, Molecular Genetic Epidemiology Section, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, Maryland, USA; 80 Renal Division, Peking University First Hospital, Beijing, China; 81 Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China; 82 August Editorial, Durham, North Carolina, USA; 83 KDIGO, Brussels, Belgium; 84 Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium; 85 Selzman Institute for Kidney Health, Section of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA Funding Information: This conference was sponsored by KDIGO and supported in part by unrestricted educational grants from American Kidney Fund, AstraZeneca , Chinook Therapeutics , Natera, Otsuka, Reata Pharmaceuticals, and Sanofi. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services , nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. Publisher Copyright: © 2022 Kidney Disease: Improving Global Outcomes (KDIGO). Published by Elsevier Inc. on behalf of the International Society of Nephrology
PY - 2022/6
Y1 - 2022/6
N2 - Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.
AB - Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on “Genetics in Chronic Kidney Disease (CKD)” to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to “think genetic,” which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.
KW - genetic kidney disease
KW - genetic testing
KW - genome-wide association studies
KW - monogenic
KW - polygenic
KW - single-nucleotide polymorphism
U2 - 10.1016/j.kint.2022.03.019
DO - 10.1016/j.kint.2022.03.019
M3 - Article
C2 - 35460632
AN - SCOPUS:85129357908
SN - 0085-2538
VL - 101
SP - 1126
EP - 1141
JO - Kidney International
JF - Kidney International
IS - 6
ER -