A 34-year-old woman is evaluated for newly detected hypertension. Ultrasound shows bilateral enlarged kidneys with multiple cysts of varying size in both cortex and medulla. Her father died of a ruptured intracranial aneurysm at age 50. Urinalysis shows microscopic hematuria. Which of the following extrarenal complications is she also at increased risk of developing?

• A Colonic diverticular perforation with pericystic liver cysts being benign findings
• B Renal cell carcinoma arising within the cysts requiring routine screening
• C Retinal angiomas and cerebellar hemangioblastomas
• D Mitral valve prolapse and abdominal wall hernias from connective tissue involvement ✓

Explanation

Autosomal dominant polycystic kidney disease, usually due to PKD1 mutations on chromosome 16, is a systemic ciliopathy. Extrarenal features include hepatic cysts, mitral valve prolapse, abdominal and inguinal hernias, colonic diverticula, and intracranial berry aneurysms, which show strong familial clustering as here. Retinal angiomas and hemangioblastomas belong to von Hippel-Lindau disease, and malignancy within cysts occurs far less often than in acquired cystic kidney disease of dialysis patients.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.