Abstract: PO1308
A Prospective Observational Study of Patients with Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)
Session Information
- Genetic Diseases of the Kidneys: Non-Cystic - I
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
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-MUC1 | ADTKD-UMOD | |
| n | 20 | 37 |
| % male | 40% | 35% |
| Mean Age (years) | 46.8 ± 14.0 | 41.7 ± 13.9 |
| Race (% White, Black, Other) | 100%, 0, 0 | 97%, 0, 3% |
| Mean eGFR (ml/min/1.73m2) | 42.2 ± 25.6 | 38.8 ± 22.7 |
| Smoking Status | 0 current smokers | 0 current smokers |
| Vegetarian Diet | 0 | 1 (4%) |
| Mean Weight (lbs) | 155.5 ± 21.3 | 175.5 ± 43.5 |
| Systolic Blood Pressure | 126.5 ± 8.6 | 120.4 ± 9.4 |
| Diastolic Blood Pressure | 80.1 ± 8.8 | 75.2 ± 10.7 |
| Diagnosed High Blood Pressure | 6 (43%) | 15 (53%) |
| Medication Usage | ||
| ACE Inhibitors | 4 (29%) | 6 (19%) |
| Angiotensin Receptor Blockers | 2 (14%) | 10 (32%) |
Funding
- NIDDK Support