What genes have been implicated?
Two genes have been identified, with slightly different phenotypes: A) PKD1, located on chromosome 16p, found in 85% of cases. Presentation is earlier and more likely to progress to end stage renal failure. B) PKD2 located on chromosome 4q, found in ~15% of cases and is less severe.
What is the likelihood that this patient has a cerebral aneurysm? How would you investigate them?
In a patient with ADPKD and a family history of cerebral aneurysms, the incidence is approximately 16%. Screening with either MRA or CTA is warranted.
Although oral contrast has not been administered in this case, what is bowel pathology is frequently encountered in patients with ADPKD?
Colonic and small bowel diverticulae are associated with the condition.
This coronal CT during renal excretory phase demonstrates marked enlargement of both kidneys by innumerable cysts, which also compress and distort the collecting system. A degree of preserved renal function with timely excretion of contrast.
Very numerous cysts in the liver are also noted.