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Abstract: TH-PO380

Increased Susceptibility and 9-Fold Increased Mortality From COVID-19 in Patients With ADTKD-MUC1

Session Information

Category: Genetic Diseases of the Kidneys

  • 1101 Genetic Diseases of the Kidneys: Cystic


  • Kidd, Kendrah O., Wake Forest Baptist Medical Center, Winston-Salem, United States
  • Vyletal, Petr, Univerzita Karlova, Praha, Czechia
  • Kim, Alice, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina, United States
  • Taylor, Abbigail, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina, United States
  • Zivna, Martina, Univerzita Karlova, Praha, Czechia
  • Stavrou, Christoforos, Evangelismos Private Hospital, Pafos, Pafos, Cyprus
  • Conlon, Peter J., Beaumont Hospital, Dublin, Ireland
  • Hogan, Richard Edmund, Beaumont Hospital, Dublin, Ireland
  • Papagregoriou, Gregory, Panepistemio Kyprou, Nicosia, Nicosia, Cyprus
  • Kmoch, Stanislav, Univerzita Karlova, Praha, Czechia
  • Bleyer, Anthony J., Wake Forest Baptist Medical Center, Winston-Salem, United States

Patients with autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations (ADTKD-MUC1) have a frameshift mutation on one allele of the MUC1 genotype, resulting in production an abnormal MUC1frameshift protein on on allele and normal MUC1 on the other allele. The C variant of the rs4072037 SNP increases production of MUC1 or MUC1fs if it is contained in the corresponding promoter. In addition to the kidneys, MUC1 is expressed in the nose and lungs. ADTKD-UMOD has a very similar clinical presentation, but UMOD is expressed only in the kidney.


We conducted a survey (after emergence of the delta variant) using the REDCAP database of 957 individuals in our ADTKD cohort to determine if COVID-19 infection was more severe in ADTKD-MUC1 patients.


There were 89 ADTKD-MUC1 and 132 ADTKD-UMOD respondents, with similar age, body mass index, transplant rates, vaccination rates, . 25/89(28%) ADTKD-MUC1 individuals developed COVID-19 vs. 21/132(16%) ADTKD-UMOD individuals (odds ratio 2.35(1.6-3.1) (p=0.028). 10/41 (24%) ADTKD-MUC1 individuals died of COVID-19 vs. 1/30 (3%) ADTKD-UMOD individuals (p=0.013), with an odds ratio of 9.4 (7.2-11.5). The mean plasma mucin1 level in 13 infected and 23 uninfected ADTKD-MUC1 individuals was 6.40±3.4 vs.10.89±3.82 U/mL (p=0.0012). Of ADTKD-MUC1 individuals who developed COVID-19, only 19% had the CC phenotype (associated with increased MUC1 production) vs. 51% of the ADTKD-MUC1 individuals who did not develop COVID-19 (p=0.01). There was no difference in rs4073037 genotype frequencies in the ADTKD-UMOD group. Of the 10 ADTKD-MUC1 patients who died, 8 were transplanted, with only 3 greater than 60 years of age. 50 percent had received 2 COVID-19 vaccines.


Patients with ADTKD-MUC1 have a 2-fold increased odds of developing COVID-19 and a 9-fold increased mortality from COVID-19. Among ADTKD-MUC1 patients, those producing less MUC1 were more likely to develop COVID-19.


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