For patients and families
“The scientists in my lab work every day to find answers for patients with rare kidney diseases.”
- Dr. Anna Greka, The Broad Institute at MIT and Harvard
Do several of your family members have kidney disease,
but you don't know the cause?
You are not alone.
You may have a rare genetic kidney disease known as Autosomal Dominant Tubulointerstitial Kidney Disease, or ADTKD. In ADTKD, mutations in certain genes cause progressive decline in kidney functioning until dialysis or transplantation is required.
The most common forms of ADTKD are ADTKD-MUC1 (“MUC1”) and ADTKD-UMOD (“UMOD”), named for the genes that are affected. Estimates of the number of kidney patients in the U.S. with either MUC1 or UMOD range from 75,000 to 100,000, and could be as many as 1 million worldwide.
MUC1 and UMOD are not widely recognized, even by kidney doctors (nephrologists), leading to non-diagnosis. This leaves both doctors and patients without answers.
WHAT ARE THE DEFINING FEATURES OF ADTKD?
There are three defining features of all subtypes of ADTKD:
A parent also had kidney disease (“autosomal dominant inheritance”). If a parent has an ADTKD gene mutation, then there is a 50/50 chance they will pass it on to each of their children (regardless of the child’s gender).
Slowly progressing chronic kidney disease. The decline in kidney functioning occurs over many years. Many people do not even know they have kidney disease until routine blood work detects elevated levels of creatinine and/or a decrease in the glomerular filtration rate (GFR).
Little or no blood or protein in the urine (“bland urinary sediment”). Often, kidney disease is diagnosed when blood and/or protein is detected in the urine. However, with ADTKD, there is no blood and rarely is there protein in the urine.
HOW IS ADTKD DIAGNOSED?
ADTKD may be suspected if an individual has each of the defining features listed above. The most definitive test for ADTKD is genetic testing. A kidney biopsy does not help diagnose ADTKD.
WHAT TREATMENTS ARE AVAILABLE FOR ADTKD?
Treatment of ADTKD focuses mainly on managing the symptoms associated with each disease subtype and on adopting healthy behaviors - such as controlling blood pressure, eating a kidney-friendly diet, and getting regular exercise. Currently, there are no treatments or cures for ADTKD.
However, researchers at The Broad Institute at MIT and Harvard are making significant progress. They have identified promising drug-like compounds that could HALT the devastating impacts of MUC1 and UMOD. The Broad Institute and its affiliate, NewCo, hope to conduct a clinical trial of these promising compounds in the near future.
Why get genetic testing?
There are many reasons why individuals may want to obtain genetic testing for ADTKD. For example:
Kidney patients who suspect ADTKD may wish to confirm the diagnosis.
Healthy adults with a family history of kidney disease may want to know if they carry one of the ADTKD gene mutations.
Adults with normal kidney functioning who wish to donate a kidney may want to rule out MUC1 and UMOD.
Genetic testing has also helped The Rare Inherited Kidney Disease Research Team at Wake Forest University School of Medicine identify the many subtypes of ADTKD and learn about the implications of these conditions for their patients’ health – for example:
Patients with ADTKD who become pregnant (and their babies) in general have very good outcomes.
Kidney functioning among men with UMOD in general, declines more quickly than in women, whereas kidney functioning among men and women with MUC1 declines at the same rate.
Patients with MUC1 are at increased risk from COVID-19, whereas patients with UMOD are not.
WHAT IS THE INTERNATIONAL ADTKD REGISTRY?
The International ADTKD Registry is a group of individuals diagnosed with ADTKD through genetic testing who have agreed to participate in research on inherited kidney disease. Created and overseen by The Rare Inherited Kidney Disease Research Team at Wake Forest University School of Medicine, the registry’s purpose is to study individuals with ADTKD to better understand these inherited kidney diseases.
WHY IS PARTICIPATION IN THE REGISTRY IMPORTANT?
Every patient who agrees to genetic testing and who joins the International ADTKD Registry will help researchers learn more about this group of insidious kidney diseases and bring our research partners one step closer to gaining the number of patients needed for a Clinical Trial of promising treatments.
As patient numbers in the registry increase, drug companies become increasingly interested in performing clinical trials of promising treatments for ADTKD.
RKDF’S GOAL
RKDF seeks to find and refer 300 kidney patients to the Rare Inherited Kidney Disease Research Team for genetic testing and possible enrollment in the International ADTKD Registry in preparation for future clinical trials.
Every patient who undergoes genetic testing and joins the registry brings our research founders one step closer to finding a treatment — and eventually, a cure — for ADTKD.
Our ultimate goal is to support our research partners in finding a cure for ADTKD.
CONTACT US ABOUT GENETIC TESTING TODAY
If you or someone you know would like to get tested for UMOD and MUC1, please request genetic testing above, and we will forward your inquiry to the Rare Inherited Kidney Disease Research Team at Wake Forest University.