Difference between revisions of "Autosomal recessive polycystic kidney disease"

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#redirect [[Cystic_kidney_diseases#Autosomal_recessive_polycystic_kidney_disease]]
'''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).<ref name=omim263200>{{OMIM|263200}}</ref>
**The same gene is implicated in [[Caroli disease]].
*Associated with congenital hepatic fibrosis
 
Subdivided into:<ref name=Ref_Klatt235>{{Ref Klatt|235}}</ref>
*Neonatal.
*Infantile.
*Juvenile.
 
==Gross==
Features:<ref name=Ref_Klatt235>{{Ref Klatt|235}}</ref>
*Marked bilateral enlargement - may almost fill the abdomen.
*Smooth cortical surface.
*Poorly demarcated corticomedullary junction.
 
DDx:
*[[Multicystic renal dysplasia]] - has larger variability of cyst size.
 
Images:
*[http://radiographics.rsna.org/content/20/3/837/F18.expansion ARPKD (radiographics.rsna.org)].<ref name=pmid10835131>{{Cite journal  | last1 = Lonergan | first1 = GJ. | last2 = Rice | first2 = RR. | last3 = Suarez | first3 = ES. | title = Autosomal recessive polycystic kidney disease: radiologic-pathologic correlation. | journal = Radiographics | volume = 20 | issue = 3 | pages = 837-55 | month =  | year =  | doi =  | PMID = 10835131 }}</ref>
*[http://radiology.uchc.edu/eAtlas/GU/529.htm ARPKD (radiology.uchc.edu)].
 
==Microscopic==
Features:<ref name=Ref_Klatt236>{{Ref Klatt|236}}</ref>
*Numerous cysts of the collecting ducts.
**Typically radially arranged.
**Lined by cuboidal cells.
*Abnormally low number of glomeruli.
 
 
==See also==
*[[Cystic kidney diseases]].
 
==References==
{{Reflist|1}}


[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:Cystic kidney diseases]]

Latest revision as of 19:16, 3 March 2015

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.
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