Genetic studies have revealed a large number of gene mutations that can lead to the development of cystic kidney disease, but interpretation of genetic findings is complex and requires knowledge of differential diagnoses. This Review describes a clinical approach to the diagnosis of cystic kidney diseases on the basis of both kidney phenotype and extrarenal manifestations of the underlying disorder, in combination with genetic testing in selected patients.
- Christine E. Kurschat
- Roman-Ulrich Müller
- Thomas Benzing
