Nephropathies [523 genes]

There are more than 500 genes associated with inherited kidney diseases, which represent more than 5% of all genetic diseases known. It is estimated that about 10% of kidney diseases that require transplantation in adults, and more than 20% in children, are caused by hereditary kidney diseases. Furthermore, it has been established that 1 in 4 patients with late-stage chronic kidney disease in adults under 45 years of age has a genetic origin.

Due to the heterogeneity of these diseases and the nature of genetic defects, an accurate diagnosis allows the cause of the disease to be identified and its progression to be predicted in those cases where this is possible.

The prevalence of these diseases varies widely, ranging from diseases with a high impact on the general population, such as polycystic kidney disease (prevalence: 1/1,000), to rare syndromes with very low incidence, which in many cases have unknown prevalence.

Identifying genetic variants responsible for hereditary nephropathies enables accurate molecular diagnosis, providing the information needed for genetic counselling, guiding patient management, and offering predictive value to carrier patients.

This service is indicated in patients with suspected hereditary nephropathy.

The approximate yield of genetic testing for hereditary nephropathies is estimated to be between 30% and 40%, considering both adult and paediatric cases. The yield varies depending on the pathology; for example, PQRAD has a yield of >80%, while other pathologies such as glomerulonephritis have a very low genetic yield.