Difference between revisions of "Fabry disease"
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'''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
- Rare X-linked genetic disease.
- Caused by defect in alpha-galactosidase A gene (GLA gene).[1]
- 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: angiokeratomas, proteinuria.
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
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 301500
- ↑ 2.0 2.1 2.2 Fischer EG, Moore MJ, Lager DJ (October 2006). "Fabry disease: a morphologic study of 11 cases". Mod. Pathol. 19 (10): 1295-301. doi:10.1038/modpathol.3800634. PMID 16799480. http://www.nature.com/modpathol/journal/v19/n10/abs/3800634a.html.