Examination may show high blood pressure, kidneys or abdominal masses (aggregations of cells) which are felt by touch during examination, abdominal tenderness over the liver (right upper quadrant), and enlarged liver. There may be heart murmurs or other signs of aortic insufficiency or mitral insufficiency.
Polycystic kidney disease, and associated cysts on the liver or other organs, may be detected with the following tests:
In a family with several affected members, genetic linkage tests can be performed to determine with fair reliability whether a person at risk carries the gene for autosomal dominant PKD.
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