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Difference between revisions of "Autosomal recessive polycystic kidney disease"
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Autosomal recessive polycystic kidney disease (view source)
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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).<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]] | |||