Cystic kidney diseases

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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

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:
    • 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.

DDx:

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.