Autosomal recessive polycystic kidney disease

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Autosomal recessive polycystic kidney disease, abbreviated ARPKD, is an uncommon recessive genetic condition leading to renal failure.

General

  • Uncommon.
  • Homogenous for mutated PKHD1 gene (polycystic kidney and hepatic disease).[1]
  • Associated with congenital hepatic fibrosis

Subdivided into:[2]

  • Neonatal.
  • Infantile.
  • Juvenile.

Gross

Features:[2]

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

DDx:

Images:

Microscopic

Features:[4]

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


See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 263200
  2. 2.0 2.1 Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 235. ISBN 978-1416002741.
  3. Lonergan, GJ.; Rice, RR.; Suarez, ES.. "Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation.". Radiographics 20 (3): 837-55. PMID 10835131.
  4. Klatt, Edward C. (2006). Robbins and Cotran Atlas of Pathology (1st ed.). Saunders. pp. 236. ISBN 978-1416002741.