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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Kidd, Kendrah O. Williams, Adrienne H. Taylor, Abbigail Martin, Lauren Robins, Victoria Sayer, John A. Olinger, Eric Mabillard, Holly R. Papagregoriou, Gregory Deltas, Constantinos Stavrou, Christoforos Conlon, Peter J. Hogan, Richard Edmund Elhassan, Elhussein A.E. Springer, Drahomíra Zima, Tomáš Izzi, Claudia Vrbacká, Alena Piherová, Lenka Pohludka, Michal Radina, Martin Vylet’al, Petr Hodanova, Katerina Zivna, Martina Kmoch, Stanislav Bleyer, Anthony J. |
| Abstract | Background MUC1 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. Methods To 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. Results Surveys 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/m2) 1.1 (1.0-1.2), age (y) 1.04 (1.0-1.1). Conclusions Individuals 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. |
| Related Links | https://bmcnephrol.biomedcentral.com/counter/pdf/10.1186/s12882-024-03896-1.pdf |
| Ending Page | 10 |
| Page Count | 10 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712369 |
| DOI | 10.1186/s12882-024-03896-1 |
| Journal | BMC Nephrology |
| Issue Number | 1 |
| Volume Number | 25 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2024-12-18 |
| Access Restriction | Open |
| Subject Keyword | Nephrology Internal Medicine Autosomal Dominant Tubulointerstitial kidney disease MUC1 UMOD COVID-19 Mucin-1 CA15-3 |
| Content Type | Text |
| Resource Type | Article |
| Subject | Nephrology |
| Journal Impact Factor | 2.2/2023 |
| 5-Year Journal Impact Factor | 2.6/2023 |
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