Considerations for genetic testing in individuals with autosomal dominant polycystic kidney disease

ABSTRACT Autosomal dominant polycystic kidney disease (ADPKD) is a systemic, irreversible, genetic condition caused by mutations in the PKD1 and PKD2 genes, and the most common form of inherited kidney disease in the United States, affecting more than 600,000 individuals. Because the condition is autosomal dominant, there is a 50% chance that each child of an affected adult will also have the pathogenic genetic mutation. PKD1 mutation accounts for approximately 85% of ADPKD cases and is characterized by an earlier onset of disease with more rapid progression, whereas PKD2 mutation accounts for the remaining 15% of cases and is characterized by a less severe and less rapid disease course. Genetic testing is not consistently used in the management of individuals with ADPKD, although it can provide invaluable information regarding disease progression and prognosis. Genetic data are necessary to effectively communicate disease progression with patients, use current prognostic calculators, and play a role in family planning. Increasing clinician knowledge in primary care and nephrology providers will contribute to improved care for individuals affected by ADPKD.