Practice Guideline

. 2022 Jun;101(6):1126-1141.

doi: 10.1016/j.kint.2022.03.019. Epub 2022 Apr 20.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

KDIGO Conference Participants

Collaborators, Affiliations

Collaborators

KDIGO Conference Participants:
Anna Köttgen¹, Emilie Cornec-Le Gall², Jan Halbritter³, Krzysztof Kiryluk⁴, Andrew J Mallett⁵, Rulan S Parekh⁶, Hila Milo Rasouly⁴, Matthew G Sampson⁷, Adrienne Tin⁸, Corinne Antignac⁹, Elisabet Ars¹⁰, Carsten Bergmann¹¹, Anthony J Bleyer¹², Detlef Bockenhauer¹³, Olivier Devuyst¹⁴, Jose C Florez¹⁵, Kevin J Fowler¹⁶, Nora Franceschini¹⁷, Masafumi Fukagawa¹⁸, Daniel P Gale¹⁹, Rasheed A Gbadegesin²⁰, David B Goldstein²¹, Morgan E Grams²², Anna Greka²³, Oliver Gross²⁴, Lisa M Guay-Woodford²⁵, Peter C Harris²⁶, Julia Hoefele²⁷, Adriana M Hung²⁸, Nine V A M Knoers²⁹, Jeffrey B Kopp³⁰, Matthias Kretzler³¹, Matthew B Lanktree³², Beata S Lipska-Ziętkiewicz³³, Kathleen Nicholls³⁴, Kandai Nozu³⁵, Akinlolu Ojo³⁶, Afshin Parsa³⁷, Cristian Pattaro³⁸, York Pei³⁹, Martin R Pollak⁴⁰, Eugene P Rhee⁴¹, Simone Sanna-Cherchi⁴², Judy Savige⁴³, John A Sayer⁴⁴, Francesco Scolari⁴⁵, John R Sedor⁴⁶, Xueling Sim⁴⁷, Stefan Somlo⁴⁸, Katalin Susztak⁴⁹, Bamidele O Tayo⁵⁰, Roser Torra⁵¹, Albertien M van Eerde⁵², André Weinstock⁵³, Cheryl A Winkler⁵⁴, Matthias Wuttke⁵⁵, Hong Zhang⁵⁶, Jennifer M King⁵⁷, Michael Cheung⁵⁸, Michel Jadoul⁵⁹, Wolfgang C Winkelmayer⁶⁰, Ali G Gharavi⁶¹

Affiliations

¹ Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany. Electronic address: anna.koettgen@uniklinik-freiburg.de.
² Univ Brest, INSERM UMR 1078, GGB, CHU Brest, Brest, France.
³ Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁴ Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
⁵ Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia; Department of Nephrology, Townsville University Hospital, Townsville, Queensland, Australia; College of Medicine, James Cook University, Townsville, Queensland, Australia; KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
⁶ Division of Nephrology, Department of Pediatrics and Medicine, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada; Division of Nephrology, Women's College Hospital, Toronto, Ontario, Canada; Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
⁷ Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA; Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
⁸ Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA.
⁹ Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France; Department of Genetics, Necker Hospital, APHP, Paris, France.
¹⁰ Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
¹¹ Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Nephrology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
¹² Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
¹³ Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; Department of Renal Medicine, University College London, London, UK.
¹⁴ Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium; Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland.
¹⁵ Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Diabetes Unit and Center for Genomic Medicine,Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
¹⁶ The Voice of the Patient, Inc., Elmhurst, Illinois, USA.
¹⁷ Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA.
¹⁸ Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, Isehara, Japan.
¹⁹ Department of Renal Medicine, University College London, London, UK; Rare Renal Disease Registry, UK Renal Registry, Bristol, UK.
²⁰ Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
²¹ Institute for Genomic Medicine, Columbia University, New York, New York, USA; Department of Genetics and Development, Columbia University, New York, New York, USA.
²² Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
²³ Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
²⁵ Center for Translational Science, Children's National Health System, Washington, DC, USA.
²⁶ Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
²⁷ Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
²⁸ 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.
²⁹ Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
³⁰ Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland, USA.
³¹ Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.
³² Division of Nephrology, St. Joseph's Healthcare Hamilton, Hamilton, Ontario, Canada; Department of Medicine, McMaster University, Hamilton, Ontario, Canada.
³³ Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
³⁴ Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
³⁵ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
³⁶ University of Kansas School of Medicine, Kansas City, Kansas, USA.
³⁷ Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
³⁸ Eurac Research, Institute for Biomedicine (affiliated with the University of Lübeck), Bolzano, Italy.
³⁹ Division of Nephrology, University Health Network, Toronto, Ontario, Canada.
⁴⁰ Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
⁴¹ Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴² Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.
⁴³ Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, Victoria, Australia.
⁴⁴ Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.
⁴⁵ Division of Nephrology, ASST Spedali Civili, di Brescia, Brescia, Italy; Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy.
⁴⁶ Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA; Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, USA.
⁴⁷ Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
⁴⁸ Department of Internal Medicine, Yale University, New Haven, Connecticut, USA; Department of Genetics, Yale University, New Haven, Connecticut, USA.
⁴⁹ Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁵⁰ Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois, USA.
⁵¹ Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, IIB-Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.
⁵² Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
⁵³ Alport Syndrome Foundation, Phoenix, Arizona, USA.
⁵⁴ Basic Research Laboratory, Molecular Genetic Epidemiology Section, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.
⁵⁵ Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
⁵⁶ Renal Division, Peking University First Hospital, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China.
⁵⁷ August Editorial, Durham, North Carolina, USA.
⁵⁸ KDIGO, Brussels, Belgium.
⁵⁹ Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.
⁶⁰ Selzman Institute for Kidney Health, Section of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
⁶¹ Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA. Electronic address: ag2239@cumc.columbia.edu.

PMID: 35460632
PMCID: PMC9922534
DOI: 10.1016/j.kint.2022.03.019

Practice Guideline

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

KDIGO Conference Participants. Kidney Int. 2022 Jun.

. 2022 Jun;101(6):1126-1141.

doi: 10.1016/j.kint.2022.03.019. Epub 2022 Apr 20.

Author

KDIGO Conference Participants

Collaborators

KDIGO Conference Participants:
Anna Köttgen¹, Emilie Cornec-Le Gall², Jan Halbritter³, Krzysztof Kiryluk⁴, Andrew J Mallett⁵, Rulan S Parekh⁶, Hila Milo Rasouly⁴, Matthew G Sampson⁷, Adrienne Tin⁸, Corinne Antignac⁹, Elisabet Ars¹⁰, Carsten Bergmann¹¹, Anthony J Bleyer¹², Detlef Bockenhauer¹³, Olivier Devuyst¹⁴, Jose C Florez¹⁵, Kevin J Fowler¹⁶, Nora Franceschini¹⁷, Masafumi Fukagawa¹⁸, Daniel P Gale¹⁹, Rasheed A Gbadegesin²⁰, David B Goldstein²¹, Morgan E Grams²², Anna Greka²³, Oliver Gross²⁴, Lisa M Guay-Woodford²⁵, Peter C Harris²⁶, Julia Hoefele²⁷, Adriana M Hung²⁸, Nine V A M Knoers²⁹, Jeffrey B Kopp³⁰, Matthias Kretzler³¹, Matthew B Lanktree³², Beata S Lipska-Ziętkiewicz³³, Kathleen Nicholls³⁴, Kandai Nozu³⁵, Akinlolu Ojo³⁶, Afshin Parsa³⁷, Cristian Pattaro³⁸, York Pei³⁹, Martin R Pollak⁴⁰, Eugene P Rhee⁴¹, Simone Sanna-Cherchi⁴², Judy Savige⁴³, John A Sayer⁴⁴, Francesco Scolari⁴⁵, John R Sedor⁴⁶, Xueling Sim⁴⁷, Stefan Somlo⁴⁸, Katalin Susztak⁴⁹, Bamidele O Tayo⁵⁰, Roser Torra⁵¹, Albertien M van Eerde⁵², André Weinstock⁵³, Cheryl A Winkler⁵⁴, Matthias Wuttke⁵⁵, Hong Zhang⁵⁶, Jennifer M King⁵⁷, Michael Cheung⁵⁸, Michel Jadoul⁵⁹, Wolfgang C Winkelmayer⁶⁰, Ali G Gharavi⁶¹

Affiliations

¹ Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany. Electronic address: anna.koettgen@uniklinik-freiburg.de.
² Univ Brest, INSERM UMR 1078, GGB, CHU Brest, Brest, France.
³ Division of Nephrology, Department of Internal Medicine, University Hospital Leipzig, Leipzig, Germany; Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁴ Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
⁵ Institute for Molecular Bioscience (IMB), The University of Queensland, Brisbane, Queensland, Australia; Department of Nephrology, Townsville University Hospital, Townsville, Queensland, Australia; College of Medicine, James Cook University, Townsville, Queensland, Australia; KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
⁶ Division of Nephrology, Department of Pediatrics and Medicine, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada; Division of Nephrology, Women's College Hospital, Toronto, Ontario, Canada; Dalla Lana School of Public Health, and Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.
⁷ Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA; Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
⁸ Division of Nephrology, University of Mississippi Medical Center, Jackson, Mississippi, USA.
⁹ Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France; Department of Genetics, Necker Hospital, APHP, Paris, France.
¹⁰ Molecular Biology Laboratory, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
¹¹ Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Nephrology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
¹² Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.
¹³ Renal Unit, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK; Department of Renal Medicine, University College London, London, UK.
¹⁴ Division of Nephrology, Cliniques Universitaires Saint-Luc, Brussels, Belgium; Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium; Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland.
¹⁵ Programs in Metabolism and Medical & Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Diabetes Unit and Center for Genomic Medicine,Massachusetts General Hospital, Boston, Massachusetts, USA; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA.
¹⁶ The Voice of the Patient, Inc., Elmhurst, Illinois, USA.
¹⁷ Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA.
¹⁸ Division of Nephrology, Endocrinology and Metabolism, Tokai University School of Medicine, Isehara, Japan.
¹⁹ Department of Renal Medicine, University College London, London, UK; Rare Renal Disease Registry, UK Renal Registry, Bristol, UK.
²⁰ Department of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
²¹ Institute for Genomic Medicine, Columbia University, New York, New York, USA; Department of Genetics and Development, Columbia University, New York, New York, USA.
²² Department of Nephrology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
²³ Kidney Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
²⁴ Clinic for Nephrology and Rheumatology, University Medical Center Göttingen, Göttingen, Germany.
²⁵ Center for Translational Science, Children's National Health System, Washington, DC, USA.
²⁶ Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA.
²⁷ Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.
²⁸ 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.
²⁹ Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
³⁰ Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), National Institutes of Health (NIH), Bethesda, Maryland, USA.
³¹ Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.
³² Division of Nephrology, St. Joseph's Healthcare Hamilton, Hamilton, Ontario, Canada; Department of Medicine, McMaster University, Hamilton, Ontario, Canada.
³³ Rare Diseases Centre and Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdansk, Gdansk, Poland.
³⁴ Department of Nephrology, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.
³⁵ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
³⁶ University of Kansas School of Medicine, Kansas City, Kansas, USA.
³⁷ Division of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland, USA.
³⁸ Eurac Research, Institute for Biomedicine (affiliated with the University of Lübeck), Bolzano, Italy.
³⁹ Division of Nephrology, University Health Network, Toronto, Ontario, Canada.
⁴⁰ Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
⁴¹ Division of Nephrology, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴² Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.
⁴³ Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, Victoria, Australia.
⁴⁴ Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; The Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle upon Tyne, UK; NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne, UK.
⁴⁵ Division of Nephrology, ASST Spedali Civili, di Brescia, Brescia, Italy; Department of Medical and Surgical Specialties, University of Brescia, Brescia, Italy.
⁴⁶ Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA; Glickman Urological & Kidney Institute, Cleveland Clinic, Cleveland, Ohio, USA; Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio, USA.
⁴⁷ Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
⁴⁸ Department of Internal Medicine, Yale University, New Haven, Connecticut, USA; Department of Genetics, Yale University, New Haven, Connecticut, USA.
⁴⁹ Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁵⁰ Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois, USA.
⁵¹ Inherited Kidney Disorders, Nephrology Department, Fundació Puigvert, IIB-Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.
⁵² Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.
⁵³ Alport Syndrome Foundation, Phoenix, Arizona, USA.
⁵⁴ Basic Research Laboratory, Molecular Genetic Epidemiology Section, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, Maryland, USA.
⁵⁵ Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
⁵⁶ Renal Division, Peking University First Hospital, Beijing, China; Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, China.
⁵⁷ August Editorial, Durham, North Carolina, USA.
⁵⁸ KDIGO, Brussels, Belgium.
⁵⁹ Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.
⁶⁰ Selzman Institute for Kidney Health, Section of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
⁶¹ Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA. Electronic address: ag2239@cumc.columbia.edu.

PMID: 35460632
PMCID: PMC9922534
DOI: 10.1016/j.kint.2022.03.019

Abstract

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.

Keywords: genetic kidney disease; genetic testing; genome-wide association studies; monogenic; polygenic; single-nucleotide polymorphism.

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Figures

**Figure 1.. Common Variant Contributions to Kidney Diseases and Traits.^{, , , ,}**
*For binary outcomes, the proportions of phenotypic variance explained by loci from genome-wide association studies (GWAS) were estimated from Nagelkerke’s or McKelvey & Zavoina pseudo R². SNP, single nucleotide polymorphism.

**Figure 2.. GWAS, Exome, or Genome Sequencing Studies. ^{, , , , , -}**
*The largest study focused on urinary albumin-to-creatinine ratio. Several included serum albumin studies. **Pediatric population. ***For case-control studies, the total sample sizes were plotted. CKD, chronic kidney disease; eGFR, estimated glomerular filtration rate; FSGS, focal segmental glomerulosclerosis; GWAS, genome-wide association studies; IgAN, IgA nephropathy; KF, kidney failure; LN, lupus nephritis; MCD, minimal change disease; MN, membranous nephropathy; Scr, serum creatinine; SRNS and SSNS, steroid-resistant and steroid-sensitive nephrotic syndrome; T1DM and T2DM, types 1 and 2 diabetes mellitus; WES, whole exome sequencing; WGS, whole genome sequencing.

**Figure 3.. Associations of *APOL1* High Risk Genotype.^-**
*APOL1* high-risk genotype: G1G1, G2G2, or G1G2 Studies were ordered by PMID, a proxy for publication date. *Compared with white patients APOL1, apolipoprotein L1; CKD, chronic kidney disease; DRC, Democratic Republic of Congo; FSGS, focal segmental glomerulosclerosis; HIVAN, HIV-associated nephropathy; HTN, hypertension; KF, kidney failure; LN, lupus nephritis; PMID, PubMed identifier.

**Figure 4.. Actionable Genes in Kidney Diseases.**
Actionability refers to the potential for genetic test results to lead to specific clinical actions for prevention or treatment of a condition, supported by recommendations based on evidence. aHUS, atypical hemolytic uremic syndrome; SRNS, steroid-resistant nephrotic syndrome; RAAS, renin-angiotensin-aldosterone system.

**Figure 5.. Unified Disease Terminology.**
Two-part (“dyadic”) naming comprises both the clinical condition and gene name. An example would be autosomal dominant tubulointerstitial kidney disease (ADTKD), in which ADTKD is followed by reference to the underlying genetic defect, such as ADTKD-*UMOD*. ADTKD, autosomal dominant tubulointerstitial kidney disease; PKD, polycystic kidney disease.

**Figure 6.. Proposed Organization for Implementing Genetics in Nephrology.**
Within a health system, multiple center types, provider specialties, and education strategies are needed for best implementing genetics in nephrology. A three-tiered organization model includes 1) a basic, common level of knowledge in genetics among all nephrologists, 2) clinical connections between nephrologists and geneticists and genetic counselors, and 3) centers of expertise where nephrologists with genetic expertise collaborate with geneticists and genetic counselors. CME, continuing medical education.

See this image and copyright information in PMC

References

1. Global Burden of Disease Chronic Kidney Disease Collaboration. Global, regional, and national burden of chronic kidney disease, 1990-2017: A systematic analysis for the Global Burden of Disease Study 2017. Lancet 2020; 395: 709–733. - PMC - PubMed
1. Rasouly HM, Groopman EE, Heyman-Kantor R, et al. The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing. Ann Intern Med 2019; 170: 11–21. - PubMed
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Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Collaborators

Affiliations

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Collaborators

Affiliations

Abstract

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References

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LinkOut - more resources

Full Text Sources

Medical