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Kidney Week

Abstract: FR-PO807

Quality of Life in Patients with Autosomal Dominant Tubulointerstitial Kidney Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, United States
  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, United States
  • Vyletal, Petr, First Faculty of Medicine, Charles University, Prague, Czechia
  • Zivna, Martina, First Faculty of Medicine, Charles University, Prague, Czechia
  • Kmoch, Stanislav, First Faculty of Medicine, Charles University, Prague, Czechia

The reaction to diagnosis and quality of life (QOL) in autosomal dominant tubulo-interstitial kidney disease (ADTKD) due to UMOD and MUC1 mutations from the time of diagnosis until treatment for end-stage kidney disease (ESKD) has not been characterized. It is unclear how asymptomatic patients react to a positive genetic test result.


A cross-sectional survey concerning QOL and genetic testing was delivered to 622 individuals who had undergone genetic testing from families with known ADTKD.


286 of 622 individuals completed the survey, including 61(21%) genetically unaffected, 3(12%) with stage 1, 2 CKD, 51(18%) Stage 3, 41(14%) Stage 4 pre-dialysis, 50(17%) receiving dialysis, and 47(16%) s/p kidney transplantation. Of 55 respondents who thought they had normal kidney function at the time of testing and were found to have ADTKD, 51(93%) were happy testing was performed (Figure 1), 3(5%) neutral, and 1(2%) neutral/unhappy. Forty-two of 183(23%) affected individuals stated that ADTKD “has a substantial effect and I think about it daily,” 47(26%) think about ADTKD weekly, 48(26%) monthly, and 48(26%) less than monthly. The mean PROMIS anxiety score was similar between unaffected and affected individuals and the general population. Depression was present in 41% of affected vs. 23% of unaffected individuals (p=0.01).


Genetic testing of presymptomatic patients for ADTKD is reasonable when requested. This study provides reassurance regarding the impact on QOL of the increased use of genetic testing to diagnose kidney disease. ADTKD has a significant impact on QOL, with depression, not anxiety, being more prevalent in affected individuals.

Figure 1. Response of 49 asymptomatic respondents who had undergone positive genetic testing for ADTKD to the question, “Are you happy that you underwent testing?” Patients responded on a scale with a score of 0=unhappy, 50=neutral, and 100=happy.


  • NIDDK Support