Snapshot A 32-year-old man presents with hematuria and abdominal pain. He denies any recent trauma or this ever happening before. Family history is significant for his mother dying from a "brain bleed" at age 42. Vital signs are significant for a blood pressure of 158/105 mmHg. On physical exam, there a late systolic crescendo murmur with a midsystolic click and tenderness upon palpation of the abdominal flanks. An ultrasound of the abdomen shows bilateral anechoic cysts with posterior enhancement. Introduction An inherited disorder that results in the expansion of multiple renal cysts which ultimately leads to end-stage renal disease Etiology Secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4) Pathogenesis login to view 2 more bullets Genetics login to view 6 more bullets Associated conditions login to view 12 more bullets Epidemiology Incidence login to view 1 more bullet Demographics login to view 1 more bullet Risk factors login to view 1 more bullet Presentation Symptoms login to view 4 more bullets Physical exam login to view 1 more bullet Imaging Ultrasound login to view 6 more bullets Studies Genetic testing login to view 1 more bullet Diagnostic criteria login to view 1 more bullet Differential Autosomal recessive polycystic kidney disease login to view 1 more bullet von Hippel-Lindau syndrome Medullary cystic disease Simple renal cyst Treatment Medical login to view 3 more bullets Complications Renal complications login to view 3 more bullets Extra-renal complications login to view 2 more bullets Prognosis With age the number and size of the cyst increases