Rare kidney diseases at the Nephrology Congress 2023

ADTKD – What is it?

There was another nephrology congress in Berlin this year. One of the main focuses was rare kidney diseases. These diseases also include ADTKD (Autosomal Dominant Tubulointerstitial Kidney Disease), and there has been a patient organization for this disease for two years.

The organization is called ADTKD Vision Cure and was represented at the congress with its own poster. By participating, the group would like to increase awareness of ADTKD among nephrologists.

ADTKD is a “young” disease; it was only discovered in 2013 and the name was only determined in 2015. There are 5 different subtypes, the two most common are called ADTKD-UMOD and ADTKD-MUC1.

ADTKD is difficult to detect

Compared to other kidney diseases such as cystic kidneys, ADTKD is difficult to recognize. The kidneys are normal size or small and appear normal on ultrasound. The disease is therefore often not diagnosed at all or is diagnosed incorrectly.

Experts therefore assume that the number of unreported cases is high. “There is an ADTKD family in every nephrology practice,” suspects the American ADTKD expert Anthony Bleyer, who has been researching the disease for the longest time to date.

The first and often only sign is a – usually slow – increase in creatinine levels. There is usually no protein or blood in the urine.

ADTKD has a 50% chance of being passed on to children. The course of events can vary greatly within a family. There are cases where one parent has a very slow progression and the child has a very rapid progression.

ADTKD diagnosis: genetic testing

The only sure way to diagnose is a genetic test. In particular, diagnosing the MUC1 subtype is difficult and involves a lot of effort. In Germany there are only two laboratories - in Erlangen and Mainz - that can carry out genetic testing for all ADTKD subforms and variants. You can find the exact addresses here.

Research on ADTKD: Hope for therapy

In ADTKD, cells in the kidney become clogged with proteins. In laboratory tests, the blockage could be dissolved using special active ingredients. In order to develop a drug from this, a study with patients is required.

Important information for patients

• It may be that your doctor is not familiar with ADTKD. ADTKD is sometimes confused with the much more well-known disease ADPKD (Autosomal Dominant Polycystic Kidney Disease). If unknown kidney diseases run in your family, tell your doctor about the possibility ADTKD. Show him the website of the patient organization, here you can find all the important information about ADTKD - both for laypeople and doctors (www.adtkd.de).