Resources for Autosomal Dominant Tubulointerstitial Kidney Disease 

The following resources are available to patients and clinicians.  For any questions about their use or the diagnosis of ADTKD, please contact kidney@wakehealth.edu 

Characteristics of autosomal dominant tubulointerstitial kidney disease include: 

  1. Autosomal dominant inheritance (parent and child affected by kidney disease). 

  2. No blood and little protein in the urine. 

  3. Chronic kidney disease. 

  • Genetic testing for MUC1 and APOA4 are currently available free of charge for families with ADTKD.  Please contact kidney@wakehealth.edu for further information. 

  • Variants of uncertain significance may or not cause genetic kidney disease.  A list of pathogenic UMOD variants can be found at https://redcap.link/UMOD.mutations . 

    We can perform in vitro testing to determine if REN or UMOD variants are pathogenic.  Please contact us at kidney@wakehealth.edu . 

     

  • We have expertise in the identification of new causes of inherited kidney disease. Please contact us at kidney@wakehealth.edu 

  • At this time, we have active patient registries for MUC1, UMOD, REN, and APOA4.  We would appreciate the referral of patients.  Patients will be eligible to have free laboratory testing to measure kidney function every four months.  In addition, they will be provided with educational materials and webinars about ADTKD.  Patients will also be made aware of upcoming clinical trials in ADTKD and invited to participate.  Please contact us at kidney@wakehealth.edu .