ADTKD -
About us

OUR GOAL: A TREATMENT FOR ATDKD

We are a family from Germany and are affected by ADTKD ourselves. Since this disease is very rare, you cannot assume that a family doctor has heard of it. Even nephrologists in private practice are usually not familiar with it. That's why it's especially important for patients to network with each other and know which doctors are really familiar with ADTKD. In Germany, it is the Zentrum für Seltene Nierenerkrankungen [Centre for Rare Kidney Diseases] in Erlangen.

In the German-speaking countries, about 130 ADTKD patients from 25 families are currently known. This number is probably actually higher, because often the diagnosis is not made at all or the patients get an incorrect diagnosis. This is also due to the fact that the disease was only correctly identified by molecular genetics in 2015. Only a genetic test can provide certainty. It is therefore important to create more awareness about ADTKD among families as well as doctors.

With this website, we would also like to contribute to improving the situation of patients in the medium term. This means that we are striving for a specific treatment to be made available in the foreseeable future.

Research in the USA and Germany gives us hope; more detailed information can be found in the Research section.

In the USA, scientists have found a substance that could potentially be effective in ADTKD-MUC1 and possibly also in ADTKD-UMOD. Whether this is actually the case needs to be tested in a clinical trial in patients with ADTKD-MUC1. As this is a very rare kidney disease, there are not many patients available for such a study.

We hope to be able to support this with our website:

Patients and doctors who are unsure about the diagnosis of ADTKD can inform themselves about the characteristics of MUC1 disease on our website.

If you suspect that you have ADTDK-MUC1, you can find information on genetic testing on our website. This is only carried out by a few laboratories.

If you are a patient or a family member, or if you are interested in ADTKD-MUC1 for other reasons, we would be happy to hear from you at info[at]adtkd.de.

The disease ADTKD is rare, but together we are many. We work together with the American patient organisation Rare Kidney Disease Foundation, which has the same goals as we do.