A 50-yr-old white woman with autosomal dominant polycystic kidney disease (ADPKD)

By DR. RAM - MEDCASE PHYSICIAN EDITOR | Jul 6, 2020

A 50-yr-old white woman with autosomal dominant polycystic kidney disease (ADPKD) seeks your advice regarding the advisability of her undergoing screening tests for an intracranial aneurysm. She has well-controlled hypertension (130/85 mmHg) on an angiotensin receptor antagonist. Other than an occasional episode of hematuria, mild abdominal discomfort, and one episode of renal colic, she is otherwise asymptomatic. A neurologic examination is normal. A serum creatinine is 2.0 mg/dl. Her father died of a “brain hemorrhage” at age 50, and her sister, age 42, has also recently been discovered by renal ultrasound to have several large cysts in both kidneys.

Explanation:

Current studies of patients with Type 1 autosomal dominant polycystic kidney disease (ADPKD) have shown an increased risk of bleeding from intracranial aneurysms (ICA). Rupture of an ICA is a particular risk if there is a family history of hemorrhagic stroke or ICA bleeding. Screening of asymptomatic patients with ADPKD Type 1 for undiagnosed ICA with magnetic resonance imaging is indicated only if such a family history is obtained. Screening of patients without such a history may not be cost-effective.  Blood pressure control and liver cysts do not factor into the screen or not-to-screen decision.

  • Belz MM, Hughes RL, Kaehny WD, et al: Familial clustering of ruptured intracranial aneurysms in autosomal dominant polycystic kidney disease. Am J Kid Dis 36: 266-271, 2000
  • Mariani L, Bianchetti MG, Schroth G, et al: Cerebral aneurysms in patients with autosomal dominant polycystic kidney disease: to screen, to clip, to coil? Nephrol Dial Transplant 14: 2319-2322, 1999
  • Martinez-Maldanado M: Extra-renal manifestations of autosomal dominant polycystic kidney disease. Am J Kid Dis 34: 14-18, 1999

Case reviewed by DR. RAM

Designation: MEDCASE PHYSICIAN EDITOR

UNIV OF MIAMI
ABIM NEPHROLOGY BOARD CERTIFIED

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