Abstract: SA-PO0617
Outcomes of Referrals to the Wake Forest Autosomal Dominant Tubulointerstitial Kidney Disease Registry
Session Information
- Monogenic Kidney Diseases: Tubular and Other
November 08, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Monogenic Kidney Diseases
Authors
- Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Zivna, Martina, Univerzita Karlova, Prague, Czechia
- 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
- Kmoch, Stanislav, Univerzita Karlova, Prague, Czechia
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, United States
Background
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is most commonly caused by pathogenic variants in UMOD or MUC1, followed by REN, HNF1b, APOA4 and SEC61A1. The Wake Forest ADTKD registry was established in 2002 to recruit and follow patients with ADTKD.
Methods
We reviewed the Wake Forest ADTKD registry (WFUHS IRB00000352) to analyze the outcomes of genetic testing and utilization of data collected within the registry.
Results
1225 families with inherited kidney disease were referred from 1996-2024. Of these families, 47% were referred by academic providers, 28% by private practice providers, and 25% directly by patients. Mean age at time of referral was 44.6±17.0, 94% of index cases were >18 y. Mean eGFR at time of referral was 37.2±27.5 ml/min, with 26% having kidney failure. The index case was male in 54% and female in 46% (p=0.00072). 21% of patient self-referrals, 23% of academic referrals and 28% of non-academic referrals resulted in an ADTKD diagnosis (p<0.05 for non-academic vs. other referrals).Registry participants led to the identification of pathogenic variants in UMOD, MUC1, REN, APOA4, and SEC61A1. Of 1225 referrals, 25% had UMOD, 12% MUC1, 2% REN, 0.4% APOA4, and 0.2% SEC61A1. 68 (5.5%) of families have well characterized ADKTD without a diagnosis. The remaining 676 cases (55%) were felt less likely to have ADTKD.
Conclusion
UMOD and MUC1 pathogenic variants are most commonly responsible for ADTKD, with 5.5% of ADTKD cases still without a diagnosis. Patients were referred late in the course of kidney failure. Direct patient referrals were as accurate as referrals from academic healthcare providers in identifying ADTKD. Non-academic providers had the highest diagnosis rate.
Distribution of genetic causes of ADTKD
Funding
- Private Foundation Support