Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg)
Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest)
Halbritter, Jan (Charité - Universitätsmedizin Berlin)
Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center)
Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance)
Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto)
Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center)
Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard)
Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center)
Antignac, Corinne (Department of Genetics. Necker Hospital. APHP)
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau)
Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg)
Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine)
Bockenhauer, Detlef (Department of Renal Medicine. University College London)
Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich)
Florez, Jose C. (Department of Medicine. Harvard Medical School)
Fowler, Kevin J. (The Voice of the Patient. Inc.)
Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina)
Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine)
Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry)
Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center)
Goldstein, David B. (Department of Genetics and Development. Columbia University)
Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine)
Greka, Anna (righam and Women's Hospital (Boston, Estats Units d'Amèrica))
Gross, Oliver (University Medical Center Göttingen)
Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System)
Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic)
Hoefele, Julia (Technische Universität München. Institut für Humangenetik)
Hung, Adriana M. (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)
Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen)
Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH))
Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan)
Lanktree, Matthew B. (Department of Medicine. McMaster University)
Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk)
Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne)
Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine)
Ojo, Akinlolu (University of Kansas School of Medicine)
Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine)
Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck))
Pei, York (Division of Nephrology. University Health Network)
Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School)
Rhee, Eugene P. (Massachusetts General Hospital (Boston))
Sanna-Cherchi, Simone (Columbia University)
Savige, Judy (The University of Melbourne)
Sayer, John (NIHR Newcastle Biomedical Research Centre)
Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia)
Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics)
Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System)
Somlo, Stefan (Yale University. Department of Genetics)
Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine)
Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences)
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics)
Weinstock, André (Alport Syndrome Foundation)
Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute)
Wuttke, Matthias (University of Freiburg)
Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease)
King, Jennifer M. (August Editorial)
Cheung, Michael (KDIGO)
Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc)
Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health)
Gharavi, Ali G. (Columbia University Irving Medical Center)
Universitat Autònoma de Barcelona

Data:	2022
Resum:	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.
Nota:	Altres ajuts: American Kidney Fund; AstraZeneca; Chinook Therapeutics; Natera; Otsuka; Reata Pharmaceuticals; Sanofi.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Genetic kidney disease ; Genetic testing ; Genome-wide association studies ; Monogenic ; Polygenic ; Single-nucleotide polymorphism
Publicat a:	Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141, ISSN 1523-1755

DOI: 10.1016/j.kint.2022.03.019
PMID: 35460632

16 p, 1.1 MB

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