There are more than 150 rare kidney diseases, and many of them also affect other organs. Although rare renal diseases are not frequent, as a whole they have an estimated prevalence of 60-80 cases per 100,000 inhabitants, and over 10% of patients with chronic renal failure have a rare renal disease.
Since these diseases often have a genetic origin, many patients with a rare kidney disease are children or young adults. In addition, as some of these diseases can evolve into end-stage renal failure, patients can be included in renal transplant programs.
Rare kidney diseases are currently under-diagnosed or, often, diagnosed late, so that the damage to the kidney and other organs affected by the disease has time to progress.
The Department has opened an outpatient clinic for patients with rare kidney diseases, with the support of the Genetics Service. Patients are assessed and, after signing an informed consent, included in the European Register, which guarantees the support of the best European kidney disease researchers. Visits can be requested by the general practitioners or by the patients (or their parents), enclosing all the clinical documentation concerning the disease.
ISMETT is on the forefront of end-stage kidney failure treatment. Over the last 20 years, 324 kidney transplants from deceased donors, 131 kidney transplants from living donor, and 21 combined liver and kidney transplants have been performed at ISMETT.
Regular meetings on rare nephropathies are organized at ISMETT. These workshops and meetings involve expert speakers and professors from all over Europe, and are open to all nephrologists. ISMETT’s Department of Pediatrics is also a data collection center for the European Rare Kidney Disease Reference Network (ERKNet).