Genetic diagnostics of kidney diseases in adulthood

Diseases of the kidney frequently have a genetic cause and so far over 600 genes related to kidney diseases have been identified. In approximately 10% of cases with chronic kidney disease of unknown origin, a monogenic cause can be found. In this respect, DNA alterations in a single gene represent the molecular cause of the disease. In many cases, the genetic diagnosis currently remains undetected; however, finding a genetic diagnosis has decisive advantages for the clinical care of patients as it opens up a series of additional treatment options for a number of disorders and also invasive diagnostic and (in the case of a genetic cause, unsuccessful) treatment measures can be dispensed with. In addition, genetic findings in the context of reverse phenotyping can reveal involvement of other organ systems at an early stage. This enables appropriate screening investigations and the timely involvement of other disciplines. Last but not least, genetic counselling enables risk assessment and cascade testing of family members at risk, tailored treatment and prevention for further affected individuals, and counselling on family planning. Thus, a broader implementation of genetic diagnostics in the clinical practice of nephrology is warranted. The practical approach regarding the indications for diagnostics and the subsequent evaluation of the genetic findings with translation into personalized management are challenges that require close interdisciplinary cooperation between nephrology, human genetics, and other disciplines. To provide optimal care to the affected patients and in view of the rapidly expanding knowledge, the need for a subspecialization of nephrogenetics within the field of nephrology is evident.