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Abstract: SA-PO0124

Patients with Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin (ADTKD-UMOD) Are at Increased Risk of Urinary Tract Infections (UTIs) and Patients with ADTKD-MUC1 Are at Increased Risk of Viral Lung Infections

Session Information

Category: Genetic Diseases of the Kidneys

  • 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)

Authors

  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Couch, Noah S., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Prague, Czechia
  • Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Prague, Czechia
  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, United States
Background

Uromodulin has been shown to participate in host defense against UTIs and to prevent kidney stones. Mucin-1 also participates in host-defense in the respiratory and GU tract. Patients with ADTKD-UMOD (UMOD) or ADTKD-MUC1 (MUC1) make less than half the normal amount of uromodulin or mucin-1. Hypothesis: UMOD patients will be at increased risk of UTIs and kidney stones vs. controls and MUC1 patients will be at increased risk of pulmonary infections.

Methods

A survey was sent to 479 individuals with ADTKD as well as unaffected family members. 235 UMOD, 150 MUC1 and 94 unaffected family members answered the survey. Of ADTKD respondents, 31% UMOD and 48% MUC1 patients had been transplanted. Negative-binomial regression analysis was performed to compare survey results, while accounting for baseline characteristics.

Results

See Table 1 for results regarding non-ESRD patients. Non-ESRD UMOD patients were shown to have higher rates of UTI over the last year when compared to controls while controlling for age and gender (incidence rate ratio (IRR): 3.26, 95% CI [1.18, 9.61], p = 0.029). 4% of controls had a UTI within the last year vs. 16% of non-ESRD UMOD patients (p=0.009 vs. controls) and 12% of non-ESRD MUC1 patients (p=0.119 vs. controls). UMOD patients did not have an increased incidence of kidney stones. Non-ESRD MUC1 patients experienced COVID-19 more often than controls when controlling for age, gender, and vaccination status (IRR: 1.31, 95% CI [1.03, 1.68], p = 0.029). MUC1 patients also reported higher rates of Influenza compared to controls (IRR: 1.28, 95% CI [1.08, 1.52], p = 0.005) and UMOD patients (IRR: 1.22, 95% CI: [1.04, 1.42], p = 0.012) when controlling for age, gender, and vaccination status.

Conclusion

ADTKD-UMOD patients have an increased risk of UTIs vs. controls and ADTKD-MUC1 patients have an increased risk of pulmonary viral infections.

Survey results for non-ESRD patients
 ControlsADTKD-UMODP-Value vs. controls
ADTKD-MUC1P-Value vs. controls
UTIs per year in last year0.26(0.67)0.43(1.10)0.0230.22(0.55)0.505
UTIs per year in last 5 years0.09(0.410.27(0.75)0.1150.30(1.20)0.075
Lifetime kidney stones experienced (n)0.37(1.13)0.29(1.41)0.4690.11(0.76)0.029
Lifetime COVID-19 episodes (n)1.37(1.08)1.48(0.99)0.4281.85(1.03)0.029
Lifetime influenza episodes (n)3.0(3.4)2.9(3.2)0.5293.3(3.4)0.005
Colds experienced in last year (n)1.75(1.38)1.80(1.17)0.8912.14(1.63)0.417

Mean(SD); P-Values calculated from negative binomial regression compared with controls

Funding

  • Other U.S. Government Support