Evidence map›Paper›PMID 39225089›Full record

Trial reportThe Journal of clinical investigation2024

Increased risk of kidney failure in patients with genetic kidney disorders.

Mark D Elliott, Natalie Vena, Maddalena Marasa, Enrico Cocchi, Shiraz Bheda, Kelsie Bogyo, Ning Shang, Francesca Zanoni, Miguel Verbitsky, Chen Wang and 23 more

Abstract readClinical TrialMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Trial report in The Journal of clinical investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Genetic Testing in the Management of Adult CKD.Journal of the American Society of Nephrology : JASN · 2026
    Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

33 authors.

Mark D ElliottDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Natalie VenaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Maddalena MarasaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Enrico CocchiDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Shiraz BhedaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Kelsie BogyoDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Ning ShangDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Francesca ZanoniDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Miguel VerbitskyDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Chen WangDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Victoria KolupaevaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Gina JinDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Maayan SoferDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Rafael Gras PenaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Pietro A CanettaDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Andrew S BombackDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Lisa M Guay-WoodfordUniversity of Pennsylvania, Philadelphia, Pennsylvania, USA.
Jean HouDepartment of Laboratory Medicine and Pathology, Cedars Sinai Medical Center, Los Angeles, California, USA.
Brenda W GillespieDepartment of Biostatistics, School of Public Health, and.
Bruce M RobinsonDepartment of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA.
Jon B KleinDepartment of Internal Medicine, Division of Nephrology and Hypertension, University of Louisville School of Medicine, Louisville, Kentucky, USA.
Michelle N RheaultDepartment of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
William E SmoyerDepartment of Pediatrics, The Research Institute at Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio, USA.
Larry A GreenbaumDepartment of Pediatrics, Division of Pediatric Nephrology, Emory University School of Medicine and Children's Healthcare of Atlanta, Atlanta, Georgia, USA.
Larry B HolzmanPerelman School of Medicine, Division of Nephrology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Ronald J FalkDepartment of Medicine, Division of Nephrology, University of North Carolina, Chapel Hill, North Carolina, USA.
Afshin ParsaDivision of Kidney, Urologic & Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, Maryland, USA.
Simone Sanna-CherchiDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Laura H MarianiDepartment of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA.
Matthias KretzlerDepartment of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, Michigan, USA.
Krzysztof KirylukDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
Ali G GharaviDepartment of Medicine, Division of Nephrology, Vagelos College of Physicians & Surgeons, Columbia University, New York, New York, USA.
CureGN Consortium

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3M
CureGNU24DK100845 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CRYSTAL A. GADEGBEKU, Laura H Mariani · 2019 to 2026
$12.1M
Elucidating IgA Nephropathy through Genetic Studies of IgA1 GlycosylationR01DK082753 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI GHARAVI, ALI G, NOVAK, JAN · 2009 to 2024
$8.7M
The Columbia PCC for CureGN: the Cure Glomerulonephropathy networkU01DK100876 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Andrew Stephen Bomback, ALI G GHARAVI · 2019 to 2026
$8.5M
CureGN-Penn PCCU01DK100846 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI LAWRENCE B. HOLZMAN · 2019 to 2026
$8.3M
CureGN-3: UNCPCCU01DK100867 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Vimal Kumar Derebail, Ronald J Falk · 2019 to 2026
$6.7M
GDCN Clinical Center-Advancing Clinical Research in Primary Glomerular DiseasesUM1DK100867 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FALK, RONALD J · 2013 to 2018
$4.0M
Multi-Omics for Chronic Kidney DiseaseU01HG013201 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Krzysztof Kiryluk · 2023 to 2026
$3.2M
NHGRI NIH HHS U01 HG013201NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK082753NIDDK NIH HHS U01 DK100846NIDDK NIH HHS U01 DK100867NIDDK NIH HHS U01 DK100876NIDDK NIH HHS U24 DK100845NIDDK NIH HHS UM1 DK100867
6 · The paper itself

Abstract

BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).RESULTSMonogenic kidney disorders were identified in 371 patients (6.5%), high-risk APOL1 genotypes in 318 (5.5%), and ACMG SFs in 100 (5.2%). Family history of kidney disease was the strongest predictor of monogenic disorders. After adjustment for traditional risk factors, monogenic kidney disorders were associated with an increased risk of kidney failure (hazard ratio [HR] = 1.72), higher rate of eGFR decline (-3.06 vs. 0.25 mL/min/1.73 m2/year), and lower risk of complete remission (odds ratioNot achieving CR = 5.25). High-risk APOL1 genotypes were associated with an increased risk of kidney failure (HR = 1.67) and faster eGFR decline (-2.28 vs. 0.25 mL/min/1.73 m2), replicating prior findings. ACMG SFs were not associated with personal or family history of associated diseases, but were predicted to impact care in 70% of cases.CONCLUSIONSMonogenic kidney disorders were associated with an increased risk of kidney failure, faster eGFR decline, and lower rates of complete remission, suggesting opportunities for early identification and intervention based on molecular diagnosis.TRIAL REGISTRATIONNA.FUNDINGNational Institute of Diabetes and Digestive and Kidney Diseases grants U24DK100845 (formerly UM1DK100845), U01DK100846 (formerly UM1DK100846), U01DK100876 (formerly UM1DK100876), U01DK100866 (formerly UM1DK100866), U01DK100867 (formerly UM1DK100867), U24DK100845, DK081943, RC2DK116690, 2U01DK100876, 1R01DK136765, 5R01DK082753, and RC2-DK122397; NephCure Kidney International; Department of Defense Research Awards PR201425, W81XWH-16-1-0451, and W81XWH-22-1-0966; National Center for Advancing Translational Sciences grant UL1TR001873; National Library of Medicine grant R01LM013061; National Human Genome Research Institute grant 2U01HG008680.

Indexed as

Apolipoprotein L1Glomerular Filtration RateRenal InsufficiencyAdolescentAdultChildFemaleHumansKidney DiseasesMaleMiddle AgedProspective StudiesRetrospective StudiesRisk FactorsAPOL1 protein, humanApolipoprotein L1Chronic kidney diseaseGenetic diseasesGeneticsMolecular diagnosisNephrology

Identifiers

PMID39225089
PMCPMC11364380

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.