Difference between revisions of "Medical kidney diseases"

Jump to navigation Jump to search

Medical kidney diseases (view source)

Revision as of 21:01, 10 April 2015

1,569 bytes removed ,  21:01, 10 April 2015
→‎Fabry disease
Line 1,050: Line 1,050:


==Fabry disease==
==Fabry disease==
===General===
{{Main|Fabry disease}}
*Rare X-linked genetic disease.
**Caused by defect in ''alpha-galactosidase A gene'' (''GLA gene'').<ref name=omim301500>{{OMIM|301500}}</ref>
**Women partially affected
*[[Lysosomal storage disorder]] - 2nd in prevalence only to [[Gaucher disease]].
*Multisystem disease affecting small vessels and [[kidney]].
 
====Presentation====
*Women: usually proteinuria.
*Men: [[angiokeratoma]]s, proteinuria.
 
====Tx====
*Symptomatic treatment.
*Enzyme replacement - ''agalsidase alpha'' (Replagal) or ''agalsidase beta'' (Fabrazyme).
 
===Microscopic===
Features:<ref name=pmid16799480>{{cite journal |author=Fischer EG, Moore MJ, Lager DJ |title=Fabry disease: a morphologic study of 11 cases |journal=Mod. Pathol. |volume=19 |issue=10 |pages=1295-301 |year=2006 |month=October |pmid=16799480 |doi=10.1038/modpathol.3800634 |url=http://www.nature.com/modpathol/journal/v19/n10/abs/3800634a.html}}</ref>
*Foamy podocyte inclusions, best visualized with ''[[toluidine blue]]''.
*Mild mesangial hypercellularity.
 
Images:
*[http://path.upmc.edu/cases/case137/micro.html Fabry disease (upmc.edu)].
*[http://path.upmc.edu/cases/case610.html Fabry disease - several images (upmc.edu)].
 
===EM===
Features:<ref name=pmid16799480/>
*Myelin-like inclusions.
**Concentric bodies with an onion-skin-like appearance.
*Zebra bodies.
**Ovoid inclusions with striped pattern.
 
Note:
*Myelin-like inclusion are not [http://en.wikipedia.org/wiki/Pathognomonic pathognomonic] for Fabry disease; they may result from drug use:<ref name=pmid16799480/>
**Amiodarone.
**Aminoglycosides.
**Chloroquine.


==Myeloma==
==Myeloma==
Michael
48,830

edits

Retrieved from "https://librepathology.org/wiki/Special:MobileDiff/37454"

Navigation menu