Autosomal dominant polycystic kidney disease

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

Autosomal dominant polycystic kidney disease
Diagnosis in short
Subtypes PKD1 gene associated, PKD2 gene associated
LM DDx acquired cystic renal disease
Molecular mutation in PKD1 gene or PKD2 gene
Gross enlarged kidney composed to many cysts
Site kidney - see cystic kidney diseases
Associated Dx end-stage kidney, liver cysts; PKD1 associated: cerebral aneurysms; PKD2 associated: colonic diverticula, aortic aneurysm, mitral valve prolapse
Clinical history family member with polycystic kidney disease
Prevalence uncommon
Radiology polycystic kidneys
Prognosis progressive renal failure
Treatment +/-nephrectomy, dialysis, renal transplant

Surgically removed to due to symptoms (mass effect); native nephrectomy often done concurrently with renal transplant.[1]

General

Etiology

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

PKD1 related disease:[2]

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

PKD2 related disease:[2]

Liver cysts and PKD

General

Features:

  • Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:[3]
    • Age dependence:
      • 10-17% <40 years old have liver cysts.
      • 70-75% >60 years old have liver cysts.
    • Renal function:
    • Females more often affected.
  • Hepatic function usu. preserved.

Complications:[2]

  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.

Microscopic

Features:[4]

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

DDx:

  • Acquired renal cystic disease - rarely.[5]
    • Morphologically similar to acquired renal cystic disease.[6]
    • It is said that "... if you can count 'em it's simple cysts; if you can't it's polycystic (renal disease)."[6][7]

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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

References

  1. ↑ Veroux, M.; Zerbo, D.; Basile, G.; Gozzo, C.; Sinagra, N.; Giaquinta, A.; Sanfiorenzo, A.; Veroux, P. (2016). "Simultaneous Native Nephrectomy and Kidney Transplantation in Patients With Autosomal Dominant Polycystic Kidney Disease.". PLoS One 11 (6): e0155481. doi:10.1371/journal.pone.0155481. PMID 27257690.
  2. ↑ 2.0 2.1 2.2 Burt, Alastair D.;Portmann, Bernard C.;Ferrell, Linda D. (2006). MacSween's Pathology of the Liver (5th ed.). Churchill Livingstone. pp. 174-5. ISBN 978-0-443-10012-3.
  3. ↑ Perrone RD (June 1997). "Extrarenal manifestations of ADPKD". Kidney Int. 51 (6): 2022–36. PMID 9186898. http://www.nature.com/ki/journal/v51/n6/pdf/ki1997276a.pdf.
  4. ↑ Fogo, Agnes B.; Kashgarian, Michael (2005). Diagnostic Atlas of Renal Pathology: A Companion to Brenner and Rector's The Kidney 7E (1st ed.). Saunders. pp. 426. ISBN 978-1416028710.
  5. ↑ Kessler M, Testevuide P, Aymard B, Huu TC (1991). "Acquired renal cystic disease mimicking adult polycystic kidney disease in a patient undergoing long-term hemodialysis". Am. J. Nephrol. 11 (6): 513–7. PMID 1819219.
  6. ↑ 6.0 6.1 RJ. 20 October 2010.
  7. ↑ Barbaric, Zoran L. (1994). Principles of Genitourinary Radiology (2nd ed.). Thieme. pp. 87. ISBN 978-0865774933.
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