Polycystic Kidney Disease



  • A group of monogenic disorders that results in renal cyst development
  • Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD)
  • ADPKD is one of the most common human genetic disorders.


  • ADPKD is generally late onset with end-stage kidney disease (ESKD) developing in older adults.
  • ARPKD is usually present in infants.

As ESKD, ADPKD: 8.7/1 million in the United States; 7/1 million in Europe

Etiology and Pathophysiology

  • ADPKD results from PKD1 and PKD2 mutations, which encode for polycystin 1 (PC1) and polycystin 2 (PC2). The disrupted polycystin function results in fluid-filled cysts that progressively increase in size, leading to gross enlargement of the kidney, and distortion of the renal architecture.
  • ARPKD secondary to PKHD1 mutations


  • ADPKD: autosomal dominant inheritance
    • PKD1 on chromosome 16p13.3 (85% of patients) encodes PC1.
    • PKD2 on chromosome 4q21 (15% of patients) encodes PC2.
  • ARPKD: autosomal recessive inheritance
    • Gene PKHD1 on chromosome 6p21.1–p12 encodes fibrocystin.

Risk Factors

Family history

General Prevention

Genetic counseling

Commonly Associated Conditions

    • Cysts in other organs
      • Polycystic liver disease in 58% of young age group to 94% of 45-year-olds
      • Pancreatic (5%); seminal (40%); arachnoid (8%)
    • Vascular manifestations
      • Intracerebral aneurysms in 6% of patients without family history and in 16% with family history
      • Aortic root dilation, dissections
    • Cardiac manifestations:
      • Mitral valve prolapse (25%); left Ventricular Hypertrophy
    • Diverticular disease
  • ARPKD: liver involvement: affected in inverse proportion to renal disease; congenital hepatic fibrosis with portal HTN

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