This is a genotype with recommended actions if clinically confirmed. In brief:
- Substantial variability occurs in the severity of renal disease and other manifestations; in general, patients with PKD1 gene mutations have more severe symptoms compared to those with PKD2 mutations.
- Recommended evaluations include: renal ultrasound, abdominal CT or MRI, standardized blood pressure screening, measurement of blood lipid concentrations, and urine studies.
- Echocardiography is recommended for those with heart murmurs or systolic clicks, and echocardiography or cardiac MRI is recommended in individuals with a family history of thoracic aortic dissections.
- Head magnetic resonance angiography (MRA) or CT angiography is recommended for some individuals, such as those with a family history of intracranial aneurysms (ICAs).
- Thoracic aortic replacement may be indicated in patients diagnosed with ADPKD.
- Blood pressure control is generally recommended.
- Patients with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD) should inform first degree adult relatives of their diagnosis, so screening and genetic counseling can be offered to them. At risk relatives should undergo ultrasonography to screen for cysts in the kidneys, liver, and pancreas and confirm a diagnosis of ADPKD.
The full ClinGen Actionability report for autosomal dominant polycystic kidney disease can be found here.
Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.