Review Question - QID 104604

This patient is suffering from a ruptured berry aneurysm. Autosomal dominant polycystic kidney disease (ADPKD) is associated with berry aneurysm formation.

ADPKD is an autosomal dominant condition characterized by normal kidneys at birth that subsequently develop multiple cysts bilaterally. This often leads to kidney failure requiring dialysis and transplantation after the 3rd or 4th decade. Beyond the complications secondary to renal disease, associations with ADPKD include: polycystic liver disease, berry aneurysm, male infertility, mitral valve prolapse, bicuspid aortic valve, aortic dissection, abdominal hernia, or diverticulosis.

Srivastava and Patel review ADPKD. Renal manifestations of the disease include renal insufficiency, UTIs, kidney stones, and/or hematuria. In addition, patients may experience abdominal or flank pain and hypertension. Intracranial aneurysms are twice as common in patients with ADPKD compared with the general population. For patients at risk of the disease (suggestive family history), screening kidney ultrasound is recommended.

Niemczyk et al. conducted a study on the value of screening ADPKD patients with brain MRA to detect intracranial aneurysms. An aneurysm was identified in 16% of their study population, with 6% requiring urgent surgical intervention. The risk of aneurysm formation rises to over 20% in patients greater than 45 years old; therefore the authors recommend screening with brain MRA in all ADPKD patients over 45 years of age.

Illustration A is a CT scan showing the multiple bilateral renal cysts characteristic of ADPKD. Illustration B shows 2 conditions associated with ADPKD - berry aneurysm formation (left) and a mass effect on the colon due to the enlargement of the kidneys, which predisposes to diverticular disease (right).

Incorrect Answers:
Answer 1: A history of multiple hemangioblastomas of the retina and spine as well as pheochromocytoma is indicative of Von Hippel Lindau syndrome, which is not associated with berry aneurysm formation.
Answer 2: A butterfly glioma is indicative of glioblastoma multiforme (GBM). There is no known association between berry aneurysm formation or ADPKD and GBM.
Answer 3: Renal cell carcinoma does NOT occur more frequently in ADPKD patients compared to the general population. However, when renal cell carcinoma does develop in ADPKD patients, it often behaves more aggressively and presents at an earlier age. There is no known association between berry aneurysm formation and renal cell carcinoma.
Answer 5: Renal transplantation within the first decade of life is often necessary for patients suffering from autosomal recessive polycystic kidney disease (ARPKD). Berry aneurysm is more often associated with ADPKD, with only a few case reports documenting cerebral aneurysm formation in ARPKD patients.