Autosomal dominant tubulointerstitial kidney disease (ADCTD) is an inherited disorder of renal excretory function. They are an important part of the causes leading to chronic kidney disease.

Patients with this disease suffer from elevated blood uric acid levels, joint inflammation or gout and progressive kidney failure leading to dialysis and kidney transplantation. Any offspring of a patient has a 50% chance of inheriting the gene mutation that causes the disease.

At the end of the 1990s, only a few dozen families with the disease were known worldwide. But its causes were until now unknown to doctors.

The four genes responsible

Doctors have identified four genes that are responsible for the onset of the disease. American professor Anthony J. Bleyer from the Wake Forest School of Medicine in Northern California, who is hosted at Charles University in Prague, is collecting data from patients who suffer from this rare disease and their families.

We have progressively diagnosed and characterised ADCTD in approximately 665 families worldwide. This makes ADCTD the second most common genetic kidney disease after polycystosis. - said research team leader Stanislav Kmoch.

The next stage of the research is to look for a treatment that would delay or stop kidney failure.

The cell models were exposed to 3,500 substances, which were tested for different purposes in various phases of clinical trials. In terms of drug development, these substances are ideal because they can skip several phases of clinical trials and get them into clinical practice more quickly, Kmoch added.

One of the substances in cells and genetically modified mice allowed the removal of mutations. It is not yet possible to estimate if and when the newly discovered substance will undergo clinical trials.