Difference between revisions of "Autosomal dominant polycystic kidney disease"

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Autosomal dominant polycystic kidney disease (view source)

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#redirect [[Cystic kidney diseases#Autosomal dominant polycystic kidney disease]]
'''Autosomal dominant polycystic kidney disease''', abbreviated '''ADPKD''', is a common genetic cause of [[chronic renal failure]].
 
==General==
===Etiology===
*Mutation in ''PKD1'' gene or ''PKD2'' gene.
*Is classified in a large group of diseases - ''ciliopathies''.
 
PKD1 related disease:<ref name=Ref_MacSween174-5>{{Ref MacSween|174-5}}</ref>
*Encodes polycystin.
*Death at ~53 years.
*Assoc. with cerebral aneurysms.
 
PKD2 related disease:<ref name=Ref_MacSween174-5>{{Ref MacSween|174-5}}</ref>
*Death at ~69 years.
*Associated with colonic diverticula, [[aortic aneurysm]], [[mitral valve prolapse]].
 
===Liver cysts and PKD===
====General====
Features:
*Most common extra-renal manifestation of PKD; dependent on age, sex and renal function:<ref name=pmid9186898>{{cite journal |author=Perrone RD |title=Extrarenal manifestations of ADPKD |journal=Kidney Int. |volume=51 |issue=6 |pages=2022–36 |year=1997 |month=June |pmid=9186898 |doi= |url=http://www.nature.com/ki/journal/v51/n6/pdf/ki1997276a.pdf}}</ref>
**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:<ref name=Ref_MacSween174-5>{{Ref MacSween|174-5}}</ref>
#Infected cyst.
#[[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:<ref name=Ref_DARP426>{{Ref DARP|426}}</ref>
*Cysts lined by simple flattened epithelium.
*Normal renal tubules interspersed between cysts.
*+/-Fibrosis (late-stage).
 
DDx:
*[[Acquired renal cystic disease]] - rarely.<ref name=pmid1819219>{{cite journal |author=Kessler M, Testevuide P, Aymard B, Huu TC |title=Acquired renal cystic disease mimicking adult polycystic kidney disease in a patient undergoing long-term hemodialysis |journal=Am. J. Nephrol. |volume=11 |issue=6 |pages=513–7 |year=1991 |pmid=1819219 |doi= |url=}}</ref>
**Morphologically similar to acquired renal cystic disease.<ref name=rj_oct2010>RJ. 20 October 2010.</ref>
**It is said that "... if you can count 'em it's simple cysts; if you can't it's polycystic (renal disease)."<ref name=rj_oct2010>RJ. 20 October 2010.</ref><ref>{{cite book |author= Barbaric, Zoran L.  |title=[http://books.google.com/books?id=uABgezxjhYwC&pg=PA87&lpg=PA87&dq=cystic+renal+disease,+%22if+you+can+count+them%22&source=bl&ots=GYyIdR9YmS&sig=DBYzT8LO2MltLA-wwW-0QwnQ6Lk&hl=en&ei=0hF-Taz0IsG3twe5yfG6BQ&sa=X&oi=book_result&ct=result&resnum=1&ved=0CBoQ6AEwAA#v=onepage&q=cystic%20renal%20disease%2C%20%22if%20you%20can%20count%20them%22&f=false Principles of Genitourinary Radiology] |publisher=Thieme |location= |year=1994 |pages= 87 |edition=2nd |isbn=978-0865774933 |oclc= |doi= |accessdate=}}</ref>
 
==Sign out==
<pre>
Left Kidney, Nephrectomy:
- Polycystic kidney with changes of chronic renal failure (thyroidization),
  consistent with polycystic kidney disease.
- NEGATIVE for malignancy.
</pre>
 
==See also==
*[[Cystic kidney diseases]].
 
==References==
{{Reflist|1}}


[[Category:Diagnosis]]
[[Category:Diagnosis]]
[[Category:Genitourinary pathology]]
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