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 Clinical definition an inherited disorder that results in expansion of multiple renal cysts which ultimately leads to end-stage renal disease Epidemiology incidence the most common inherited cause of kidney disease demographics ≥ 30 years of age risk factors family history Etiology secondary to mutations in PKD1 (on chromosome 16, more common; ~85%) or PKD2 (on chromosome 4) Pathogenesis PKD1 or PKD2 mutations results in abnormal cell signaling that results in cystogenesis expansion of cysts results in progressive loss of nephrons Genetics inheritance pattern autosomal dominant mutations PKD1 (on chromosome 16) or PKD2 (on chromosome 4) PKD1 encodes polycystin-1 PKD2 encodes polycystin-2 Associated conditions cyst development in other organs such as liver (most common extra-renal cyst type) pancreas seminal vesicle note that kidneys appear normal at birth vascular abnormalities such as intracranial aneurysm coronary artery aneurysm cardiovascular abnormalities mitral valve prolapse left ventricular hypertrophy diverticulosis Prognosis with age the number and size of the cyst increases Presentation Symptoms abdominal or flank pain low back pain hematuria urinary tract infection Physical exam hypertension Imaging Ultrasound indication in patients with findings suggestive of autosomal dominant polycystic kidney disease findings renal cysts anechoic structures with posterior acoustic enhancement Studies Genetic testing routine use is not recommended Diagnostic criteria diagnosis is made by imaging (e.g., renal ultrasound) along with a consistent clinical presentation (e.g., hypertension in a young adult) Differential Autosomal recessive polycystic kidney disease von Hippel-Lindau syndrome Medullary cystic disease Simple renal cyst Treatment Medical ACE-inhibitor or angiotensin receptor blocker (ARB) initial treatment of hypertension in patients with ADPKD other medications are used to manage ADPKD complications Complications Renal complications hematuria nephrolithiasis urinary tract infection Extra-renal complications hypertension (most common) intracranial aneurysm