Michael: split out

2015-04-10T20:59:49Z

split out

← Older revision		Revision as of 20:59, 10 April 2015
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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:Diagnosis]]
			[[Category:Medical kidney diseases]]

Michael: +Cat.

2011-10-18T03:38:20Z

+Cat.

← Older revision		Revision as of 03:38, 18 October 2011
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	#redirect [[Medical_kidney_diseases#Fabry_disease]]		#redirect [[Medical_kidney_diseases#Fabry_disease]]

			[[Category:Diagnosis]]

Michael: redirect for now

2011-09-01T02:32:38Z

redirect for now

New page

#redirect [[Medical_kidney_diseases#Fabry_disease]]

Fabry disease - Revision history

Michael: split out

Michael: +Cat.

Michael: redirect for now