A patient presents with multiple cysts in both kidneys leading to renal failure. Patient died of cerebrovascular bleeding. Postmortem findings shown intra-veutricular aneurysmal rupture. Intracranial aneurysms are associated with
Correct Answer: Polycystic kidney disease
Description: (B) Polycystic kidney disease # GENETIC CONSIDERATIONS - Clinical Features:> The disease may present at any age but most frequently causes symptoms in the third or fourth decade.> Patients may develop chronic flank pain from the mass effect of the enlarged kidneys.> Acute pain indicates infection, urinary tract obstruction by clot or stone, or sudden hemorrhage into a cyst.> Gross and microscopic hematuria are common, and impaired renal concentrating ability frequently leads to nocturia.> Nephrolithiasis occurs in 15 to 20% of patients, calcium oxalate and uric acid stones being most common.> Low urine pH, low urine citrate, and urinary stasis from distortion of the collecting system by cysts all play a role in stone format on.> Hypertension is found in 20 to 30% of children and up to 75% of adults.> It is secondary to intrarenal ischemia from distortion of the renal architecture, leading to activation of the renin-angiotensin system.> Patients with hypertension have a much more rapid progression to ESRD.> Urinary tract infection is common and may involve the bladder or renal interstitium (pyelonephritis) or infect a cyst (pyocyst).> Pyocysts can be difficult to diagnose but are more likely to be present if the patient has positive blood cultures, new renal pain or failed to improve clinically after a standard course of antibiotic therapy.> Intracranial aneurysms are present in 5 to 10% of asymptomatic patients, with potential for permanent neurologic injury or death from subarachnoid hemorrhage.> Screening of all ADPKD patients for aneurysms is not recommended, but patients with a family history of subarachnoid hemorrhage should be studied noninvasively with magnetic resonance imaging angiography.
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