Evidence map›Paper›PMID 41535652›Full record

ArticlePediatric nephrology (Berlin, Germany)2026

APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract.

Lisanne M Vendrig, Juntao Ke, Michael W T Tanck, Tze Y Lim, Elena Martinelli, Monica Bodria, Valentina Capone, Claudia Izzi, Claudio La Scola, Umberto Maggiore and 16 more

Abstract read
In one paragraph

Article in Pediatric nephrology (Berlin, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

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5 · Who and what money

Authors and funding

26 authors.

Lisanne M VendrigDepartment of Pediatric Nephrology, Emma Children's Hospital - Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0001-7871-7018
Juntao KeDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, USA.ORCID http://orcid.org/0000-0003-2948-9359
Michael W T TanckDepartment of Epidemiology and Data Science, Amsterdam UMC, Location University of Amsterdam, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0001-9828-4459
Tze Y LimDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, USA.ORCID http://orcid.org/0000-0003-2643-9065
Elena MartinelliDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, USA.ORCID http://orcid.org/0009-0004-3983-1116
Monica BodriaDivision of Nephrology, Dialysis, Transplantation, and Laboratory Of Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Valentina CaponePediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.
Claudia IzziClinical Genetic Unit, Department of Molecular and Translational Medicine, Spedali Civili and University of Brescia, Brescia, Italy.ORCID http://orcid.org/0000-0001-6253-3185
Claudio La ScolaPediatric Nephrology and Dialysis, Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Via Massarenti 11, 40138, Bologna, Italy.ORCID http://orcid.org/0000-0002-2644-7447
Umberto MaggioreDepartment of Medicine and Surgery, University of Parma, Parma, Italy.ORCID http://orcid.org/0000-0002-7468-9600
Pierluigi MarzuilloDepartment of Woman, Child and of General and Specialized Surgery, Università Degli Studi Della Campania "Luigi Vanvitelli", Naples, Italy.ORCID http://orcid.org/0000-0003-4682-0170
Giuseppe MasnataDepartment of Pediatric Urology, Azienda Ospedaliera Brotzu, Cagliari, Italy.ORCID http://orcid.org/0000-0001-5136-3563
Frank D MentchCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-4889-6961
Giovanni MontiniPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.ORCID http://orcid.org/0000-0002-7350-4475
Isabella PisaniDepartment of Medicine and Surgery, University of Parma, Parma, Italy.ORCID http://orcid.org/0000-0002-7770-2647
Huiqi QuCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-9317-4488
Matthew G SampsonDepartment of Medicine/Pediatric Nephrology, Boston Children's Hospital, and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9560-076X
Ana Cristina Simões-E-SilvaDepartment of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.ORCID http://orcid.org/0000-0001-9222-3882
Alexandria ThomasCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Jaap W GroothoffDepartment of Pediatric Nephrology, Emma Children's Hospital - Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-8467-3506
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0003-2814-7461
Gian Marco GhiggeriDivision of Nephrology, Dialysis, Transplantation, and Laboratory Of Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.ORCID http://orcid.org/0000-0003-3659-9062
Miguel VerbitskyDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, USA.ORCID http://orcid.org/0000-0002-7066-0552
Elena N LevtchenkoDepartment of Pediatric Nephrology, Emma Children's Hospital - Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0002-8352-7312
Simone Sanna-Cherchi *Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, USA. ss2517@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-6185-948X
Rik Westland *Department of Pediatric Nephrology, Emma Children's Hospital - Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. ri.westland@amsterdamumc.nl.ORCID http://orcid.org/0000-0003-4960-4078

Funding

Integrating large scale genomics and functional studies to accelerate FSGS/NS discoveryRC2DK122397 · NIDDK · BETH ISRAEL DEACONESS MEDICAL CENTER · PI HILDEBRANDT, FRIEDHELM, POLLAK, MARTIN R. · 2020 to 2024
$7.4M
APOL1 - associated nephropathy from human-derived, intrarenal perspectiveR01DK108805 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MATTHEW Gordon SAMPSON, Simone Sanna-Cherchi · 2016 to 2026
$3.4M
European Research Council CoG-101045467NIDDK NIH HHS R01 DK108805NIDDK NIH HHS RC2 DK122397Nierstichting 20OC002Nierstichting 24OK1076Nierstichting 24OM+012NINR NIH HHS RC2-DK122397U.S. Department of Defense W81XWH-22-1-0966
6 · The paper itself

Abstract

backgroundAPOL1 high-risk variants predispose to chronic kidney disease (CKD) in individuals of African genetic ancestry due to podocyte toxicity. As congenital anomalies of the kidney and urinary tract (CAKUT) have variable outcomes potentially driven by podocyte injury, we hypothesize that the outcome of children with CAKUT is influenced by APOL1 risk genotypes.

methodsAPOL1 risk status was determined in children and adults with CAKUT from African genetic ancestry using DNA microarrays or exome sequencing. Phenotypic information and CKD outcomes at last follow-up were collected. We computed odds ratios (OR) and hazard ratios between APOL1-high risk (HR) vs. low risk (LR) carriers under different models using logistic regression and Cox proportional hazards.

resultsClinical data were available for 195 patients (median age 15.35 years, [IQR 11.01-19.87]), including 20 (10.3%) carrying APOL1-HR. Under a recessive model, APOL1-HR vs. LR showed no differences in proteinuria or hypertension (OR 0.24, 95% CI 0.04-1.30, p = 0.10 and OR 0.99, 95% CI 0.38-2.54, p = 0.98, respectively), nor in CKD stage ≥ G2 risk (OR 0.71, 95% CI 0.29-1.78, p = 0.47). Median time until kidney failure for APOL1 risk groups was 11.59 years [IQR 7.15-21.47] and 14.35 years ([IQR 9.16-17.20]; p = 0.73) for HR and LR, respectively. Additional exploratory analyses showed comparable outcomes between HR and LR variant carriers.

conclusionsThis pilot study identified no association between APOL1 risk genotypes and kidney outcomes in patients with CAKUT across genetic models. With APOL1-targeted therapies emerging, large-scale prospective studies are needed to identify individuals with CAKUT who may benefit from these treatment strategies.

Indexed as

Apolipoprotein L1Renal Insufficiency, ChronicUrogenital AbnormalitiesVesico-Ureteral RefluxAdolescentChildExome SequencingFemaleGenetic Predisposition to DiseaseGenotypeHumansKidneyMalePodocytesRisk FactorsYoung AdultAPOL1 protein, humanApolipoprotein L1CAKUTChronic kidney diseaseGeneticsGlomerular hyperfiltrationPrecision medicine

Identifiers

PMID41535652
PMCPMC13359541

What Socratic holds

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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.