A 56-year-old man presents with hypertension and peripheral edema. He is otherwise healthy and takes no medications. Family history reveals that his father and a brother have kidney disease. His father was on hemodialysis before his death at age 68 of a stroke. Physical examination reveals BP 174/96 and AV nicking on funduscopic examination. He has a soft S4 gallop. Bilateral flank asses measuring 16 cm in length are palpable. Urinalysis shows 15 to 20 RBC/hpf and trace protein but is otherwise normal; his serum creatinine is 2.4 mg/dL.Which is the most likely long-term complication of his condition?
This patient has adult polycystic kidney disease (APCKD), an autosomal dominant condition. It is the commonest genetic renal disease causing ESRD and often presents with hypertension, hematuria, and large palpable kidneys. Imaging studies would confirm the diagnosis by showing numerous bilateral renal cortical cysts. Cysts are often seen in the liver and pancreas but rarely cause symptoms. Most patients progress to end-stage renal disease despite meticulous blood pressure control with ACE inhibitors or angiotensin receptor blockers.Malignancy and dementia are not seen with increased incidence in APCKD patients. About 10% of patients with APCKD harbor berry aneurysms in the circle of Willis; a ruptured berry aneurysm may have accounted for his father's stroke. APCKD patients also have an increased incidence of abdominal and thoracic aneurysms as well as diverticulosis. The abnormal gene, on chromosome 16 in 85% of patients, appears to encode a structural protein that helps keep the renal tubules open and unobstructed. This same protein provides strength to the walls of arteries and other epithelial structures (pancreatic ductules, bile ductules, and colon).
End-stage renal disease (ESRD) requiring dialysis or transplantation
Malignancy
Ruptured cerebral aneurysm
Biliary obstruction owing to cystic disease of the pancreas
Kidney