Abstract: INFO24
Clinical Trials and Genetic Testing for Autosomal Dominant Tubulo-Interstitial Kidney Disease (ADTKD)
Session Information
- Informational Posters
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Greka, Anna, Brigham and Women's Hospital, Boston, Massachusetts, United States
- Zivna, Martina, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
- Kidd, Kendrah O., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Kmoch, Stanislav, Univerzita Karlova 1 lekarska fakulta, Praha, Praha, Czechia
Description
Background: ADTKD is characterized by autosomal dominant inheritance and slowly progressive chronic kidney disease associated with a bland urinary sediment and normal ultrasound. Mutations in UMOD, MUC1, and REN are the most common casues of this disorder. MUC1 genetic testing cannot be done with standard Sanger sequencing and is not included in gene panels or whole exome sequencing. We are trying to increase awareness and diagnosis of this condition and enroll patients in a prospective observational study to learn about disease progression.
Clinical Trials: (1) Genetic diagnosis in ADTKD. We are able to perform genotyping for MUC1, UMOD, and REN at no cost to the participant. Testing is performed for individuals with a family history of kidney disease associated with a bland urinary sediment. Clinical testing is available for the MUC1 gene free of charge as well. (2) Prospective international observational study. Patients with genetically proven UMOD, MUC1, or REN mutations are invited to participate. Genotyping can be provided. A baseline collection of biomarkers is performed followed by serum creatinine determinations every 4-6 months. A patient survey is completed on-line every four months regarding medication use, diet, and blood pressure. Laboraory testing is free, and results are provided to patients. This study is a precursor to a future interventional study. (3) We are using advanced genetic and immunohistochemical techniques to diagnose individuals with inherited kidnye disease of unknown cause.
If interested in participation in these trials, please contact me at ableyer@wakehealth.edu
Most common forms of ADTKD
| Gene | Disease Name | Associated Symptoms Besides CKD |
| UMOD | Uromodulin Kidney Disease | Gout in some families prior to CKD |
| MUC1 | Mucin-1 Kidney Disease | Anemia in childhood, gout, mild hypotension, mild hyperkalemia |
| REN | Renin Associated Kidney Disease | No other associated symptoms |
| HNF1B | HNF1B | Early onset diabetes, CKD, genito-urinary tract abnormalities, unexplained elevated liver tests |