Q: What is the diagnosis?
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A: Autosomal dominant polycystic kidneys
Q: What genes have been implicated?
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A: 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.
Q: What is the likelihood that this patient has a cerebral aneurysm? How would you investigate them?
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A: 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.
Q: What is the approximate incidence of this condition?
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A: 1:400 to 1:1000.
Q: Although oral contrast has not been administered in this case, what is bowel pathology is frequently encountered in patients with ADPKD?
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A: Colonic and small bowel diverticulae are associated with the condition.
Q: If the case above, had extensive pancreatic cysts, with few hepatic cysts, which other possible diagnosis should be considered?
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A: Multiple renal cysts with multiple pancreatic cysts are typical feature of von-Hippel-Lindau disease.