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Kidney Week

Abstract: PO1308

A Prospective Observational Study of Patients with Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Williams, Adrienne H., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Robins, Victoria C., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Taylor, Abbigail, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Martin, Lauren, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Kim, Alice, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
  • Langefeld, Carl D., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
  • Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
  • Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
Background

GFR decline in ADTKD due to UMOD or MUC1 mutations has not been well characterized. We have begun an international prospective cohort study to determine genetic and environmental factors associated with progression. We report here on early recruitment.

Methods

Patients with positive genetic testing for UMOD or MUC1 mutations prior to transplantation or starting dialysis are eligible. A baseline collection of health information, serum and urine biomarkers will be performed, with patients then followed longitudinally, with a serum creatinine measurement performed three times per year. There will be a nested cohort study of women who develop pregnancy during the study and patients started on ACE inhibition.

Results

Since March 2021, we have enrolled 57 patients in the prospective observational study, with 20 men, 35 women. The mean age of patients is 43.3 years, the mean baseline eGFR is 39.96 ml/min/1.73m2. Table 1 shows baseline characteristics of patients enrolled in the study. No patients with CKD Stage 1 or 2 suffered from HTN, and only 39% of patients with CKD Stage 3 had HTN. Only 18% of patients were receiving ACE/ARB inhibition.

Conclusion

Despite significant CKD, there was a relatively low prevalence of HTN. Only 18% of patients were receiving ACE inhibition, indicating a potential therapeutic intervention. Please contact us if you have a patient who may be interested in participating in this prospective study (ableyer@wakehealth.edu).

Baseline Characteristics of Enrolled ADTKD Patients
 ADTKD-MUC1ADTKD-UMOD
n2037
% male40%35%
Mean Age (years)46.8 ± 14.041.7 ± 13.9
Race (% White, Black, Other)100%, 0, 097%, 0, 3%
Mean eGFR (ml/min/1.73m2)42.2 ± 25.638.8 ± 22.7
Smoking Status0 current smokers0 current smokers
Vegetarian Diet01 (4%)
Mean Weight (lbs)155.5 ± 21.3175.5 ± 43.5
Systolic Blood Pressure126.5 ± 8.6120.4 ± 9.4
Diastolic Blood Pressure80.1 ± 8.875.2 ± 10.7
Diagnosed High Blood Pressure6 (43%)15 (53%)
Medication Usage  
ACE Inhibitors4 (29%)6 (19%)
Angiotensin Receptor Blockers2 (14%)10 (32%)

Funding

  • NIDDK Support