Genetics in nephrology

When discussing the genetic determinants of kidney disease, a distinction must be made between multifactorial diseases with a genetic contribution and monogenic (hereditary) nephropathies. Hereditary nephropathies are genetically heterogeneous, with Alportaposs syndrome, hereditary podocytopathies and ciliopathies constituting the major disease groups. For genetic testing, the German Genetic Diagnostics Act needs to be complied with. Hereditary nephropathies can have overlapping phenotypes and it is important that a clinically suspected diagnosis that could not be genetically confirmed by testing of the usual disease-associated genes should be questioned. If in doubt, consultation with a human geneticist (proficient in nephrogenetics) can be helpful. A correct genetic diagnosis can have major implications on disease prognosis, management and treatment.