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

被引：59

作者：

Koettgen, Anna ^{[1
,2
]}

Cornec-Le Gall, Emilie ^{[3
]}

Halbritter, Jan ^{[4
,5
]}

Kiryluk, Krzysztof ^{[6
,7
]}

Mallett, Andrew J. ^{[8
,9
,10
,11
]}

Parekh, Rulan S. ^{[12
,13
,14
,15
]}

Rasouly, Hila Milo ^{[6
,7
]}

Sampson, Matthew G. ^{[16
,17
,18
,19
]}

Tin, Adrienne ^{[20
]}

Antignac, Corinne ^{[21
,22
]}

Ars, Elisabet ^{[23
]}

Bergmann, Carsten ^{[2
,24
,25
]}

Bleyer, Anthony J. ^{[26
]}

Bockenhauer, Detlef ^{[27
,28
]}

Devuyst, Olivier ^{[29
,30
,31
]}

Florez, Jose C. ^{[32
,33
,34
,35
,36
]}

Fowler, Kevin J. ^{[37
]}

Franceschini, Nora ^{[38
]}

Fukagawa, Masafumi ^{[39
]}

Gale, Daniel P. ^{[28
,40
]}

Gbadegesin, Rasheed A. ^{[41
]}

Goldstein, David B. ^{[42
,43
]}

Grams, Morgan E. ^{[44
]}

Greka, Anna ^{[18
,19
]}

Gross, Oliver ^{[45
]}

Guay-Woodford, Lisa M. ^{[46
]}

Harris, Peter C. ^{[47
]}

Hoefele, Julia ^{[48
]}

Hung, Adriana M. ^{[49
]}

Knoers, Nine V. A. M. ^{[50
]}

Kopp, Jeffrey B. ^{[51
]}

Kretzler, Matthias ^{[52
,53
]}

Lanktree, Matthew B. ^{[54
,55
]}

Lipska-Zietkiewicz, Beata S. ^{[56
,57
]}

Nicholls, Kathleen ^{[58
]}

Nozu, Kandai ^{[59
]}

Ojo, Akinlolu ^{[60
]}

Parsa, Afshin ^{[61
,62
]}

Pattaro, Cristian ^{[63
]}

Pei, York ^{[64
]}

Pollak, Martin R. ^{[65
]}

Rhee, Eugene P. ^{[66
]}

Sanna-Cherchi, Simone ^{[67
]}

Savige, Judy ^{[68
,69
]}

Sayer, John A. ^{[70
,71
,72
]}

Scolari, Francesco ^{[73
,74
]}

Sedor, John R. ^{[75
,76
,77
]}

Sim, Xueling ^{[78
,79
]}

Somlo, Stefan ^{[80
,81
]}

Susztak, Katalin ^{[82
,83
]}

机构：

[1] Univ Freiburg, Fac Med, Inst Genet Epidemiol, Hugstetter Str 49, D-79106 Freiburg, Germany

[2] Univ Freiburg, Med Ctr, Hugstetter Str 49, D-79106 Freiburg, Germany

[3] Univ Brest, GGB, CHU Brest, INSERM UMR 1078, Brest, France

[4] Univ Hosp Leipzig, Dept Internal Med, Div Nephrol, Leipzig, Germany

[5] Charite Univ Med Berlin, Dept Nephrol & Med Intens Care, Berlin, Germany

[6] Columbia Univ, Dept Med, Div Nephrol, Irving Med Ctr, Russ Berrie Pavil,1150 St Nicholas Ave, New York, NY 10032 USA

[7] Columbia Univ, Ctr Precis Med & Genom, Dept Med, Irving Med Ctr, New York, NY USA

[8] Univ Queensland, Inst Mol Biosci IMB, Brisbane, Qld, Australia

[9] Townsville Univ Hosp, Dept Nephrol, Townsville, Qld, Australia

[10] James Cook Univ, Coll Med, Townsville, Qld, Australia

[11] Australian Genom Hlth Alliance, KidGen Collaborat, Melbourne, Vic, Australia

[12] Univ Toronto, Univ Hlth Network, Hosp Sick Children, Div Nephrol,Dept Pediat & Med, Toronto, ON, Canada

[13] Womens Coll Hosp, Div Nephrol, Toronto, ON, Canada

[14] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada

[15] Univ Toronto, Hlth Policy Management & Evaluat, Toronto, ON, Canada

[16] Boston Childrens Hosp, Div Nephrol, Boston, MA USA

[17] Harvard Med Sch, Boston, MA 02115 USA

[18] Broad Inst MIT & Harvard, Kidney Dis Initiat, Cambridge, MA 02142 USA

[19] Harvard Med Sch, Dept Med, Brigham & Womens Hosp, Boston, MA 02115 USA

[20] Univ Mississippi, Med Ctr, Div Nephrol, Jackson, MS USA

[21] Univ Paris, Imagine Inst, INSERM U1163, Lab Hereditary Kidney Dis, Paris, France

[22] Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France

[23] Univ Autonoma Barcelona, Inst Invest Biomed St Pau IIB St Pau, Fundacio Puigvert, Mol Biol Lab, Barcelona, Catalonia, Spain

[24] Limbach Genet, Med Genet Mainz, Mainz, Germany

[25] Univ Freiburg, Fac Med, Dept Nephrol, Freiburg, Germany

[26] Wake Forest Sch Med, Sect Nephrol, Winston Salem, NC 27101 USA

[27] NHS Fdn Trust, Great Ormond St Hosp Children, Renal Unit, London, England

[28] UCL, Dept Renal Med, London, England

[29] Clin Univ St Luc, Div Nephrol, Brussels, Belgium

[30] UCLouvain, Inst Rech Expt & Clin, Brussels, Belgium

[31] Univ Zurich, Mech Inherited Kidney Disorders Grp, Dept Physiol, Zurich, Switzerland

[32] Broad Inst MIT & Harvard, Program Metab, Cambridge, MA 02142 USA

[33] Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA

[34] Massachusetts Gen Hosp, Diabet Unit, Boston, MA 02114 USA

[35] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[36] Harvard Med Sch, Dept Med, Boston, MA 02115 USA

[37] Voice Patient Inc, Elmhurst, IL USA

[38] Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC USA

[39] Tokai Univ, Sch Med, Div Nephrol Endocrinol & Metab, Isehara, Kanagawa, Japan

[40] UK Renal Registry, Renal Dis Registry, Bristol, Avon, England

[41] Duke Univ Med Ctr, Div Nephrol, Dept Pediat, Durham, NC USA

[42] Columbia Univ, Inst Genom Med, New York, NY USA

[43] Columbia Univ, Dept Genet & Dev, New York, NY USA

[44] Johns Hopkins Univ, Sch Med, Dept Nephrol, Baltimore, MD USA

[45] Univ Med Ctr Gottingen, Clin Nephrol & Rheumatol, Gottingen, Germany

[46] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA

[47] Mayo Clin, Div Nephrol & Hypertens, Rochester, MN USA

[48] Tech Univ Munich, Sch Med, Klinikum Rechts Isar, Inst Human Genet, Munich, Germany

[49] Vanderbilt Univ Sch Med, Vanderbilt Precis Nephrol Program, Vanderbilt Ctr Kidney Dis, Div Nephrol & Hypertens,Dept Med,VA Tennessee Val, Nashville, TN USA

[50] Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

来源：

KIDNEY INTERNATIONAL | 2022年 / 101卷 / 06期

关键词：

genetic kidney disease; genetic testing; genome-wide association studies; monogenic; polygenic; single-nucleotide polymorphism; GENOME-WIDE ASSOCIATION; APOL1 RISK VARIANTS; FOCAL SEGMENTAL GLOMERULOSCLEROSIS; STAGE RENAL-DISEASE; AFRICAN-AMERICANS; SUSCEPTIBILITY LOCI; MEDICAL GENETICS; LINKAGE ANALYSIS; LUPUS NEPHRITIS; EGFR DECLINE;

D O I：

10.1016/j.kint.2022.03.019

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1126 / 1141

页数：16

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