Review Question - QID 103045

This patient with hypertension, cystic appearing kidneys, and a family history of kidney disease with sudden death likely has autosomal dominant polycystic kidney disease (ADPKD).

ADPKD is an autosomal dominant disease that causes small, saccular fluid pockets to develop in the kidneys. The disease typically begins to manifest in the third or fourth decade of life. Hypertension is a common presenting symptom. Coexisting hepatic cysts are also common. Patients with ADPKD are at particularly increased risk for developing cerebral saccular (berry) aneurysms. These aneurysms are prone to rupture, therefore leading to spontaneous subarachnoid hemorrhage. Patients with ADPKD are screened for cerebral aneurysms based on family history, occupation, and a number of other factors. Management of ADPKD is with with blood pressure control via an ACE inhibitor or angiotensin receptor blocker. Many patients will require eventual renal transplant.

Colbert et. al review the diagnosis and management of ADPKD. They note the risk for cerebral aneurysm in patients with ADPKD, and discuss strategies for management and prevention of secondary complications.

Incorrect Answers:
Answer 1: Central nervous system hemangioblastomas are common in Von-Hippel Lindau syndrome (VHL). While patients with VHL may develop renal cell carcinoma, they do not present with polycystic kidneys and hypertension.

Answer 2: Medullary thyroid carcinoma may develop in patients with multiple endocrine neoplasia (MEN) types 2A and 2B. These patients may also have pheochromocytoma, but they do not have polycystic kidneys.

Answer 3: Pheochromocytoma may develop in patients with a number of different familial conditions including MEN types 2A/2B, neurofibromatosis or VHL. However, this patient's hypertension and polycystic kidneys are more suggestive of ADPKD, which is not associated with pheochromocytoma.

Answer 4: Renal cell carcinoma may develop in patients with a number of different familial conditions including VHL. However, it would typically present as a solitary renal mass, not with bilaterally cystic appearing kidneys.

Bullet Summary:
Patients with autosomal dominant polycystic kidney disease are at a particularly increased risk for developing subarachnoid hemorrhage as a result of rupture of cerebral aneurysms.