ADTKD -
Diagnosis
HOW IS ADTKD DIAGNOSED?
The diagnosis of ADTKD or its
subtypes
is made by molecular biologicay using
DNA analyses. In this process, certain genes are searched for possible changes.
HOW IS THE TEST CARRIED OUT?
The test only requires a blood sample. The blood sample can be taken in a nephrology practice or a university hospital, for example. The sample is then sent to an appropriately qualified laboratory.
The diagnosis of the ADTKD-MUC1 subtype is more complicated. If ADTKD is suspected and no abnormalities were found in the molecular genetic examination of other genes, an additional search for MUC1 mutations should be carried out.
If you live in a European country and would like to test for ADTKD(-MUC1), we recommend that you contact the
European Rare Kidney Disease Reference Network (ERKNet). They have an
expert group specifically for this disease.
WHEN CAN A GENETIC TEST BE USEFUL?
Talk to your doctor about genetic testing if you can answer "yes" to one or more of these questions:
- Do several of your family members have chronic kidney disease or kidney failure - especially in each generation?
- Do you suspect that you probably have an inherited kidney disease, but the doctor is not sure exactly what it is called?
- Do you already know that members of your family have ADTKD (or medullary cystic kidney disease)?
WHY SHOULD I TAKE THE GENE TEST IF THERE IS NO SPECIFIC THERAPY?
- Perhaps the most important reason is that research is already being done on therapies for ADTKD, most intensively for the MUC1 and UMOD subtypes. Patients diagnosed with this condition may be able to participate in trials. One such trial is expected in 2024. For more information, see the Research chapter.
- If the test shows that ADTKD disease is present, patients may be spared a biopsy.
- The progression of the disease can be slowed down by general measures such as blood pressure regulation. Recently, there has also been the option of using an SGLT2 inhibitor. This drug, originally developed for diabetics, can also slow down the progression of the disease.
- The diagnosis can be relevant for family planning, especially in young patients.
- In the case of a planned living donation by family members, this is the only way to rule out that the person does not have the disease themselves.
- The diagnosis can exclude the possibility of the genetic defect being transferred to a transplanted kidney.
Litature
Bleyer, AJ et al. Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. 2013 Aug 15 [updated 2021 Oct 21]
Torra, R. Autosomal diominant tubulointerstitial kidney disease (ADTKD). E-Seminar, ERA 2021; Abruf unter: https://www.youtube.com/watch?v=8H2NHBwtd1M
Weidemann, A. Genetische Nierenerkrankungen - Neue Entwicklungen und Auswirkungen auf Warteliste und Transplantation, 7/2020;
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