Evidence map›Paper›PMID 39696072›Full record

Observational studyBMC nephrology2024

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Kendrah O Kidd, Adrienne H Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A Sayer, Eric Olinger, Holly R Mabillard, Gregory Papagregoriou, Constantinos Deltas and 16 more

Abstract readObservational Study
In one paragraph

Observational study in BMC nephrology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors.

Kendrah O KiddWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Adrienne H WilliamsDNA Data Solutions, LLC, St. Petersburg, FL, USA.
Abbigail TaylorWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Lauren MartinWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Victoria RobinsWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
John A SayerTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Eric OlingerCenter for Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium.
Holly R MabillardTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Gregory PapagregoriouDepartment of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.
Constantinos DeltasDepartment of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus.
Christoforos StavrouDepartment of Nephrology, Evangelismos Hospital, Paphos, Cyprus.
Peter J ConlonDepartment of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.
Richard Edmund HoganDepartment of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.
Elhussein A E ElhassanDepartment of Nephrology and Transplantation Beaumont Hospital, Dublin, Ireland.
Drahomíra SpringerInstitute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czech Republic.
Tomáš ZimaInstitute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and the First Faculty of Medicine of Charles University, Prague, Czech Republic.
Claudia IzziClinical Genetics Unit, University of Brescia and Spedali Civili, Brescia, Italy.
Alena VrbackáDepartment of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Lenka PiherováDepartment of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Michal PohludkaGenespector, Prague, Czech Republic.
Martin RadinaDepartment of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Petr Vylet'alDepartment of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Katerina HodanovaDepartment of Paediatrics and Inherited Metabolic Disorders, Research Unit of Rare Diseases, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Martina ZivnaWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Stanislav KmochWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA.
Anthony J BleyerWake Forest School of Medicine, Section on Nephrology, Winston-Salem, NC, 27157, USA. ableyer@wakehealth.edu.

Funding

Chronic Kidney Disease (CKD) Biomarkers Consortium Data Coordinating CenterU01DK103225 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SCHRAUBEN, SARAH JEANNE · 2014 to 2020
$5.5M
European Regional Development Fund and by the Slovak Research and Development Agency PP-COVID-20-0056Government of Cyprus and the University of Cyprus 857122Ministerstvo Zdravotnictví Ceské Republiky NU22-A-123Ministry of Education of the Czech Republic LTAUSA19068Ministry of Health of the Czech Republic NU21-07-00033National Center for Medical Genomics LM2023067NIDDK NIH HHS U01 DK103225OP Integrated Infrastructure ITMS: 313011ATA2Royal College of Surgeons of England StAR PhDUniverzita Karlova v Praze UNCE/MED/007
6 · The paper itself

Abstract

backgroundMUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1.

methodsTo determine whether decreased mucin-1 production was associated with an increased COVID-19 risk, we sent a survey to members of an ADTKD registry in September 2021, after the initial, severe wave of COVID-19. We linked results to previously obtained ADTKD genotype and plasma CA15-3 (mucin-1) levels and created a longitudinal registry of COVID-19 related deaths.

resultsSurveys were emailed to 637 individuals, with responses from 89 ADTKD-MUC1 and 132 ADTKD-UMOD individuals. 19/83 (23%) ADTKD-MUC1 survey respondents reported a prior COVID-19 infection vs. 14/125 (11%) ADTKD-UMOD respondents (odds ratio (OR) 2.35 (95%CI 1.60-3.11, P = 0.0260). Including additional familial cases reported from survey respondents, 10/41 (24%) ADTKD-MUC1 individuals died of COVID-19 vs. 1/30 (3%) with ADTKD-UMOD, with OR 9.21 (95%CI 1.22-69.32), P = 0.03. The mean plasma mucin-1 level prior to infection in 14 infected and 27 uninfected ADTKD-MUC1 individuals was 7.06 ± 4.12 vs. 10.21 ± 4.02 U/mL (P = 0.035). Over three years duration, our longitudinal registry identified 19 COVID-19 deaths in 360 ADTKD-MUC1 individuals (5%) vs. 3 deaths in 478 ADTKD-UMOD individuals (0.6%) (P = 0.0007). Multivariate logistic regression revealed the following odds ratios (95% confidence interval) for COVID-19 deaths: ADTKD-MUC1 8.4 (2.9-29.5), kidney transplant 5.5 (1.6-9.1), body mass index (kg/m

conclusionsIndividuals with ADTKD-MUC1 are at an eight-fold increased risk of COVID-19 mortality vs. ADTKD-UMOD individuals. Haplo-insufficient production of mucin-1 may be responsible.

Indexed as

COVID-19Mucin-1MutationAdultAgedFemaleHumansMaleMiddle AgedNephritis, InterstitialRegistriesSARS-CoV-2UromodulinMUC1 protein, humanMucin-1UMOD protein, humanUromodulinAutosomal Dominant Tubulointerstitial kidney diseaseCA15-3COVID-19MUC1Mucin-1UMOD

Identifiers

PMID39696072
PMCPMC11654191

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.