Polycystic Kidney Disease: The Daily PANCE Blueprint
A 41-year-old man is evaluated for hypertension and intermittent right flank pain. He has had two episodes of painless gross hematuria. His father required dialysis in his fifties and died of a brain hemorrhage. Blood pressure is 158/96, and both kidneys are palpable as large, irregular masses. Creatinine is 1.6 mg/dL. Ultrasound shows numerous bilateral renal cysts, and several cysts are present in the liver. Which of the following is the most likely diagnosis?
A. Simple renal cysts
B. Autosomal dominant polycystic kidney disease
C. Medullary sponge kidney
D. Renal cell carcinoma
E. Chronic pyelonephritis
Answer and topic summary
The answer is B. Autosomal dominant polycystic kidney disease
Bilateral enlarged kidneys packed with cysts, hypertension, hematuria, hepatic cysts, and a dominant family history is autosomal dominant polycystic kidney disease, most often from a PKD1 mutation. Cysts arise from tubular epithelium and expand relentlessly, destroying functioning parenchyma and activating the renin-angiotensin system — which is why hypertension is usually the earliest sign and why ACE inhibitors or ARBs are the antihypertensives of choice. The detail that should stop you is the father’s fatal brain hemorrhage: ADPKD carries a markedly increased risk of intracranial berry aneurysm, and a family history of aneurysmal rupture is a firm indication to screen this patient with MR angiography. Extrarenal cysts in the liver, and mitral valve prolapse, round out the syndrome. Tolvaptan can slow progression in rapidly declining patients. Simple cysts are few and incidental, medullary sponge kidney causes small cysts with stones and a normal-sized kidney, and neither renal cell carcinoma nor chronic pyelonephritis produces this diffuse bilateral cystic picture with hepatic involvement.
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