A 35-year-old woman underwent ultrasound evaluation for dyspepsia. No gallstones were identified; however, the ultrasonogram showed three cortical cysts in the right kidney, two in the left kidney, and two liver cysts. She is in good health and has no urinary symptoms. Her father died at the age of 52 from a stroke. There is no family history of kidney disease.
Her blood pressure is 132/78 mm Hg and pulse is 89/min. Her BMI is 29 kg/m². Physical examination is unremarkable.
Her serum creatinine is 0.8 mg/dL. Urinalysis is normal.
Which of the following is the most likely diagnosis?

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Quizplus · Accepted Answer

11ec193a_9723_672b_853d_a1edd1e0fd87_MD0002_00 This patient's number of kidney cysts, liver cysts, and possible family history of cerebral aneurysm (father's stroke) is consistent with likely autosomal dominant polycystic kidney disease (ADPKD). The characteristic ultrasound findings for ADPKD are listed in the above table. Autosomal dominant polycystic kidney disease is frequently associated with hepatic cysts (up to 20-80% of patients), pancreatic cysts, cerebral aneurysms (5-20% of patients), cardiac valvular disease (e.g., mitral or aortic regurgitation), and diverticulosis. Genetic testing should be performed in this patient to confirm the diagnosis. Treatment is mainly supportive with close follow-up to monitor renal function and treatment of associated conditions (e.g., hypertension). (Choice A) Acquired cystic disease presents with small cysts in advanced chronic kidney disease due to non-cystic causes. Unlike ADPKD, acquired cystic disease usually presents with smaller kidneys with a smooth contour and no family history. (Choice C) Multiple benign cysts at this age are less common, rarely bilateral, and are usually not associated with liver cysts. (Choice D) Medullary sponge kidney typically presents with dilated collecting ducts in the medullary pyramids that is sometimes confused with the radiographic appearance of ADPKD. However, medullary sponge kidney does not involve the cortex, while ADPKD usually does. (Choice E) Tuberous sclerosis is usually associated with renal angiomyolipomas (70% of cases), multiple renal cysts (30% of cases), skin lesions (e.g., hypopigmented macules), and CNS disease (e.g., subependymal giant cell astrocytoma). This patient's lack of skin findings and associated liver cysts make tuberous sclerosis unlikely. Educational objective: Ultrasound findings of multiple renal cysts may suggest autosomal dominant polycystic kidney disease, which is associated with several extra-renal manifestations (e.g., hepatic cysts and intracerebral aneurysms). __________ References: Unified criteria for ultrasonographic diagnosis of autosomal dominant polycystic kidney disease. (http://www.ncbi.nlm.nih.gov/pubmed/18945943) Hepatic and renal manifestations in autosomal dominant polycystic kidney disease: a dichotomy of two ends of a spectrum. (http://www.ncbi.nlm.nih.gov/pubmed/21978978)

A 35-Year-Old Woman Underwent Ultrasound Evaluation for Dyspepsia