Difference between revisions of "Cystic kidney diseases"

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===General===
===General===
*Uncommon.
*Uncommon.
*Homogenous for mutated ''PKHD1 gene'' (polycystic kidney and hepatic disease).<ref name=omim263200>{{OMIM|263200}}</ref>  
*Homogenous for mutated ''PKHD1 gene'' (polycystic kidney and hepatic disease).<ref name=omim263200>{{OMIM|263200}}</ref>
**The same gene is implicated in [[Caroli disease]].
*Associated with congenital hepatic fibrosis
*Associated with congenital hepatic fibrosis



Revision as of 17:03, 6 May 2012

Cystic kidney diseases, also cystic renal diseases, are a group of medical kidney diseases characterized by multiple cysts.

Renal neoplasms, e.g. renal cell carcinoma, may be cystic. They are dealt with in kidney tumours.

Overview

Adult

Pediatric

  • Autosomal recessive polycystic kidney disease (ARPKD).
  • Medullary sponge kidney.
  • Nephronophthisis.


Specific diseases

Autosomal dominant polycystic kidney disease

  • Abbreviated ADPKD.

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:
      • 60-70% of patients with end-stage renal disease (ESRD) and near-ESRD.
    • 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.
    • 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:[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]

Acquired renal cystic disease

General

  • Thought to arise due to uremia,[7] not specific to the type of renal dialysis, i.e. hemodialysis vs. peritoneal dialysis.
  • Presence of cysts dependent on duration of dialysis:[7]
    • < 3 years ~44%.
    • >4 years ~80%.
    • >10 years ~90%.
  • Associated with papillary renal cell carcinoma.[8]

Microscopic

Features:[4]

  • Cysts - location: cortex and medulla.
    • Lined by simple flattened epithelium.

DDx:

Autosomal recessive polycystic kidney disease

  • Abbreviated ARPKD.

General

  • Uncommon.
  • Homogenous for mutated PKHD1 gene (polycystic kidney and hepatic disease).[9]
  • Associated with congenital hepatic fibrosis

Subdivided into:[10]

  • Neonatal.
  • Infantile.
  • Juvenile.

Gross

Features:[10]

  • Marked bilateral enlargement - may almost fill the abdomen.
  • Smooth cortical surface.
  • Poorly demarcated corticomedullary junction.

Images:

Microscopic

Features:[12]

  • Numerous cysts of the collecting ducts.
    • Typically radially arranged.
    • Lined by cuboidal cells.
  • Abnormally low number of glomeruli.

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. 4.0 4.1 4.2 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.
  7. 7.0 7.1 Fick GM, Gabow PA (October 1994). "Hereditary and acquired cystic disease of the kidney". Kidney Int. 46 (4): 951–64. PMID 7861721. http://www.nature.com/ki/journal/v46/n4/pdf/ki1994354a.pdf.
  8. 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. 438. ISBN 978-1416028710.
  9. Online 'Mendelian Inheritance in Man' (OMIM) 263200
  10. 10.0 10.1 Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 235. ISBN 978-1416002741.
  11. Lonergan, GJ.; Rice, RR.; Suarez, ES.. "Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation.". Radiographics 20 (3): 837-55. PMID 10835131.
  12. Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 236. ISBN 978-1416002741.