Difference between revisions of "Autosomal dominant polycystic kidney disease"

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


==Microscopic==
==Microscopic==

Revision as of 14:45, 21 June 2016

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:[1]

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

PKD2 related disease:[1]

Liver cysts and PKD

General

Features:

  • Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:[2]
    • 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:[1]

  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:[3]

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

DDx:

  • Acquired renal cystic disease - rarely.[4]
    • Morphologically similar to acquired renal cystic disease.[5]
    • It is said that "... if you can count 'em it's simple cysts; if you can't it's polycystic (renal disease)."[5][6]

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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. ↑ 1.0 1.1 1.2 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 5.0 5.1 RJ. 20 October 2010.
  6. ↑ Barbaric, Zoran L. (1994). Principles of Genitourinary Radiology (2nd ed.). Thieme. pp. 87. ISBN 978-0865774933.
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