Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease, abbreviated ADPKD, is a common genetic cause of chronic renal failure.

General

Etiology

• Mutation in PKD1 gene or PKD2 gene.
• Is classified in a large group of diseases - ciliopathies.

PKD1 related disease:

• Encodes polycystin.
• Death at ~53 years.
• Assoc. with cerebral aneurysms.

PKD2 related disease:

• Death at ~69 years.
• Associated with colonic diverticula, aortic aneurysm, mitral valve prolapse.

Liver cysts and PKD

General

Features:

• Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:
  • Age dependence:
    • 10-17% <40 years old have liver cysts.
    • 70-75% >60 years old have liver cysts.
  • Renal function:
    • 60-70% of patients with end-stage renal disease (ESRD) and near-ESRD.
  • Females more often affected.
• Hepatic function usu. preserved.

Complications:

1. Infected cyst.
2. Cholangiocarcinoma.

Microscopic

Features:

• Von Meyenburg complexes:
  • Cluster of dilated ducts with "altered" bile.
  • Surrounded by collagenous stroma.

See: Medical liver disease.

Gross

Features:

• Thin walled cysts.
  • Number of cysts:
    • If you can count 'em it favours acquired renal cystic disease... if you can't it favours the genetic condition.

Microscopic

Features:

• Cysts lined by simple flattened epithelium.
• Normal renal tubules interspersed between cysts.
• +/-Fibrosis (late-stage).

DDx:

• Acquired renal cystic disease - rarely.
  • Morphologically similar to acquired renal cystic disease.
  • It is said that "... if you can count 'em it's simple cysts; if you can't it's polycystic (renal disease)."

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Left Kidney, Nephrectomy: 
- Polycystic kidney with changes of chronic renal failure (thyroidization), 
  consistent with polycystic kidney disease. 
- NEGATIVE for malignancy. 

See also

• Cystic kidney diseases.