Difference between revisions of "Fabry disease"

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#redirect [[Medical_kidney_diseases#Fabry_disease]]
'''Fabry disease''' is a rare X-linked [[lysosomal storage disease]] that leads to [[renal failure]].
 
==General==
*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===
www:
*[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.
 
==See also==
*[[Medical kidney diseases]].
 
==References==
{{Reflist|2}}
 
[[Category:Diagnosis]]
[[Category:Medical kidney diseases]]

Latest revision as of 20:59, 10 April 2015

Fabry disease is a rare X-linked lysosomal storage disease that leads to renal failure.

General

Presentation

Tx

  • Symptomatic treatment.
  • Enzyme replacement - agalsidase alpha (Replagal) or agalsidase beta (Fabrazyme).

Microscopic

Features:[2]

  • Foamy podocyte inclusions, best visualized with toluidine blue.
  • Mild mesangial hypercellularity.

Images

www:

EM

Features:[2]

  • Myelin-like inclusions.
    • Concentric bodies with an onion-skin-like appearance.
  • Zebra bodies.
    • Ovoid inclusions with striped pattern.

Note:

  • Myelin-like inclusion are not pathognomonic for Fabry disease; they may result from drug use:[2]
    • Amiodarone.
    • Aminoglycosides.
    • Chloroquine.

See also

References