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Kidney Week

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


  • 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

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

Most common forms of ADTKD
GeneDisease NameAssociated Symptoms
Besides CKD

UMODUromodulin Kidney DiseaseGout in some families prior to CKD
MUC1Mucin-1 Kidney DiseaseAnemia in childhood, gout, mild hypotension, mild hyperkalemia
RENRenin Associated Kidney DiseaseNo other associated symptoms
HNF1BHNF1BEarly onset diabetes, CKD,
genito-urinary tract abnormalities, unexplained elevated liver tests