WHAT IS ADTKD?

When we say rare kidney diseases, we are specifically referring to Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD).  ADTKD is a group of genetic disorders, each of which cause progressive decline in kidney function as a result of a specific gene mutation. 

Three genetic conditions account for almost call cases of ADTKD:

What are the Characteristics and Symptoms of ADTKD?

All subtypes of ADTKD are characterized by the following two features:

FAMILY HISTORY OF KIDNEY DISEASE

All types of ADTKD have an autosomal dominant inheritance. This means that one of your parents had a mutated gene causing chronic kidney disease and passed it on to you. ADTKD does not skip generations, although it may present less severely in a parent than a child. If a parent has the disease, there is a 50% chance they will pass it on to a child.

Slowly progressive kidney disease

Impaired kidney function may appear in the teenage years, although the age when kidney failure occurs is highly variable, usually between the ages of 20 and 70 years. Many people do not even know they have kidney disease until their blood creatinine levels rise very high and they lose a significant amount of kidney function. They usually do not develop any symptoms until the disease is very advanced. Patients’ energy levels slow down over a two-to-five year period until they need to go on dialysis and/or qualify for a kidney transplant. Other signs of kidney disease include generally not feeling well and anemia. Patients may also experience problems with anemia, fluid accumulation in the legs or in the lungs, imbalances in blood electrolytes, and accumulated toxins, all of which can be life threatening.

Patients with ADTKD may experience other symptoms that are not common to all patients. For example, medullary cysts may be present in some patients with ADTKD. Additionally, patients with UKD have a greater likelihood of experiencing gout. As described above, ADTKD-REN patients may have additional symptoms that manifest in childhood. 

HOW IS ADTKD DIAGNOSED?

Genetic testing is available for UKD, MKD and ADTKD-REN.  Because these genetic testing capabilities are relatively new, we believe there are still many undiagnosed ADTKD patients around the world. Currently, approximately 1,800 patients worldwide have had a definitive genetic test diagnosing ADTKD.

If kidney disease runs in your family, but no one knows exactly what it is, genetic testing for ADTKD may be right for you.

WHAT TREATMENTS ARE AVAILABLE FOR ADTKD?

There are currently very limited treatment options for patients with rare kidney diseases, making it an area of tremendous unmet need. Patients ultimately need to go on dialysis and/or qualify for a kidney transplant. Currently, there are no available therapeutic treatments or cures for ADTKD.  

However, researchers at The Broad Institute and Wake Forest School of Medicine that spearhead the scientific and clinical research for ADTKD are making significant progress. They are hoping to begin a clinical trial in the next year to test an already used medicine to see if it helps MKD.  

It is our mission to get ADTKD patients off dialysis with a treatment or cure. Find out how you can make a difference.