Autosomal dominant polycystic kidney disease

Classification

• Autosomal dominant PKD (ADPKD): presents in adulthood; family history
• Autosomal recessive PKD (ARPKD): presents in childhood; severe

Clinical Presenation

• Flank pain from renal hemorrhage, calculi, or UTI
• Hypertension and hematuria
• CKD, usually starting in the 4th decade
  • Risk factors for progressive CKD include hypertension, early onset of symptoms, male gender, and increased renal size

Extrarenal complications

• Cerebral aneurysms (5-20%), hepatic and pancreatic cysts, cardiac valve disease, colonic diverticula, abdominal wall and inguinal hernias and seminal vesicle cysts

Management

CKD

• Manage risk factors, especially hypertension
• ACEi/ARB for hypertension and to slow CKD (especially if proteinuric)
• Eventually needs hemodialysis or renal transplant

Extrarenal Complications

• Needs screening for cerebral aneurysms