Gaucher disease - Revision history

Michael: fix gr

2014-01-12T12:15:47Z

fix gr

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	'''Gaucher disease''' is the most common [[lysosomal storage diseases\|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal \| last1 = Chen \| first1 = M. \| last2 = Wang \| first2 = J. \| title = Gaucher disease: review of the literature. \| journal = Arch Pathol Lab Med \| volume = 132 \| issue = 5 \| pages = 851-3 \| month = May \| year = 2008 \| doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 \| PMID = 18466035 }}</ref> Despite being the most common in its grouping, it is still quite rare.		'''Gaucher disease''' is the most common [[lysosomal storage diseases\|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal \| last1 = Chen \| first1 = M. \| last2 = Wang \| first2 = J. \| title = Gaucher disease: review of the literature. \| journal = Arch Pathol Lab Med \| volume = 132 \| issue = 5 \| pages = 851-3 \| month = May \| year = 2008 \| doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 \| PMID = 18466035 }}</ref> Despite being the most common in its grouping, it is still quite rare.

	Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people ~~are~~ marry their cousins.		Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people marry their cousins.

	==General==		==General==

Michael: /* See also */

2013-11-29T02:22:30Z

Michael at 02:22, 29 November 2013

2013-11-29T02:22:10Z

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	\| ClinDDx =		\| ClinDDx =
	}}		}}
	'''Gaucher disease''' is the most common [[lysosomal storage diseases\|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal \| last1 = Chen \| first1 = M. \| last2 = Wang \| first2 = J. \| title = Gaucher disease: review of the literature. \| journal = Arch Pathol Lab Med \| volume = 132 \| issue = 5 \| pages = 851-3 \| month = May \| year = 2008 \| doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 \| PMID = 18466035 }}</ref>		'''Gaucher disease''' is the most common [[lysosomal storage diseases\|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal \| last1 = Chen \| first1 = M. \| last2 = Wang \| first2 = J. \| title = Gaucher disease: review of the literature. \| journal = Arch Pathol Lab Med \| volume = 132 \| issue = 5 \| pages = 851-3 \| month = May \| year = 2008 \| doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 \| PMID = 18466035 }}</ref> Despite being the most common in its grouping, it is still quite rare.

	~~Despite being the most common in its grouping, it is still quite rare.~~ Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people are marry their cousins.		Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people are marry their cousins.

	==General==		==General==

Michael at 02:21, 29 November 2013

2013-11-29T02:21:47Z

← Older revision		Revision as of 02:21, 29 November 2013
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	\| ClinDDx =		\| ClinDDx =
	}}		}}
	'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare ~~thingy that may be~~ seen in people ~~that~~ marry their cousins.		'''Gaucher disease''' is the most common [[lysosomal storage diseases\|lysosomal storage disease]].<ref name=pmid18466035>{{Cite journal \| last1 = Chen \| first1 = M. \| last2 = Wang \| first2 = J. \| title = Gaucher disease: review of the literature. \| journal = Arch Pathol Lab Med \| volume = 132 \| issue = 5 \| pages = 851-3 \| month = May \| year = 2008 \| doi = 10.1043/1543-2165(2008)132[851:GDROTL]2.0.CO;2 \| PMID = 18466035 }}</ref>

			Despite being the most common in its grouping, it is still quite rare. Like most [[storage disorders]], it is inherited autosomal recessive; thus, it is seen more commonly in families where people are marry their cousins.

	==General==		==General==

Michael at 09:05, 29 July 2013

2013-07-29T09:05:53Z

← Older revision		Revision as of 09:05, 29 July 2013
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	'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins.		'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins.

	==~~Pathology~~==		==General==
			Pathology:
	*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>		*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>
	*Defect in ''acid beta-glucosidase'' gene (''GBA gene'').<ref name=omim230800>{{OMIM\|230800}}</ref><ref name=omim230900>{{OMIM\|230900}}</ref><ref name=omim231000>{{OMIM\|231000}}</ref>		*Defect in ''acid beta-glucosidase'' gene (''GBA gene'').<ref name=omim230800>{{OMIM\|230800}}</ref><ref name=omim230900>{{OMIM\|230900}}</ref><ref name=omim231000>{{OMIM\|231000}}</ref>

Michael: /* Images */ +image

2013-07-29T09:05:21Z

Images: +image

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	===Images===		===Images===
	<gallery>		<gallery>
			Image:Gaucher disease - intermed mag.jpg \| Gaucher disease - intermed. mag. (WC)
			Image:Gaucher_disease_-_high_mag.jpg \| Gaucher disease - high mag. (WC)
	Image:Gaucher_disease_-_very_high_mag.jpg \| Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)		Image:Gaucher_disease_-_very_high_mag.jpg \| Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)
	~~Image:Gaucher_disease_-_high_mag.jpg \| Gaucher disease - high mag. (WC)~~
	</gallery>		</gallery>
	www:		www:

Michael: /* Microscopic */ +images

2013-07-27T15:44:25Z

Microscopic: +images

← Older revision		Revision as of 15:44, 27 July 2013
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	***Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).		***Abundant macrophages with cytoplasm filled by very small (clear) vacuoles (~0.2-0.4 micrometres).

	Images:		===Images===
	*[[WC]]:		<gallery>
	**[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].		Image:Gaucher_disease_-_very_high_mag.jpg \| Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)
	**[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].		Image:Gaucher_disease_-_high_mag.jpg \| Gaucher disease - high mag. (WC)
	*www:		</gallery>
	**[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].		www:
	**[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>		*[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
	**[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>		*[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>
			*[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>

	==Stains==		==Stains==

Michael: +infobox

2013-07-27T15:43:26Z

+infobox

← Older revision		Revision as of 15:43, 27 July 2013
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			{{ Infobox diagnosis
			\| Name = {{PAGENAME}}
			\| Image = Gaucher_disease_-_very_high_mag.jpg
			\| Width =
			\| Caption = Gaucher disease. [[H&E stain]].
			\| Micro = crumpled tissue paper macrophages
			\| Subtypes = type I, type II, type III
			\| LMDDx =
			\| Stains =
			\| IHC =
			\| EM =
			\| Molecular =
			\| IF =
			\| Gross =
			\| Grossing =
			\| Site = [[bone]], other
			\| Assdx = [[fracture of bone]]
			\| Syndromes =
			\| Clinicalhx =
			\| Signs =
			\| Symptoms =
			\| Prevalence =
			\| Bloodwork = pancytopenia
			\| Rads =
			\| Endoscopy =
			\| Prognosis = dependent on subtype
			\| Other =
			\| ClinDDx =
			}}
	'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins.		'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins.

Michael: tweak

2012-03-01T05:16:05Z

tweak

← Older revision		Revision as of 05:16, 1 March 2012
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	'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy seen in people that marry their cousins.		'''Gaucher disease''' a [[lysosomal storage diseases\|lysosomal storage disease]]. It is a rare thingy that may be seen in people that marry their cousins.

	==Pathology==		==Pathology==
	*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>		*Accumulation of ''glucocerebroside'' in monocytes/macrophages due to deficiency of ''glucocerebrosidase''.<ref name=emedicine>URL: [http://emedicine.medscape.com/article/944157-overview http://emedicine.medscape.com/article/944157-overview]. Accessed on: 3 December 2010.</ref>
			*Defect in ''acid beta-glucosidase'' gene (''GBA gene'').<ref name=omim230800>{{OMIM\|230800}}</ref><ref name=omim230900>{{OMIM\|230900}}</ref><ref name=omim231000>{{OMIM\|231000}}</ref>

	===Subtypes===		===Subtypes===
	*There are several.		*There are several types - all are autosomal recessive.<ref name=emedicine/>
	*All are autosomal recessive.<ref name=emedicine/>

	Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8\|95}}</ref>		Types:<ref name=Ref_PCPBoD8_95>{{Ref PCPBoD8\|95}}</ref>

Michael: /* Microscopic */ images separate

2012-01-02T07:07:18Z

Microscopic: images separate

← Older revision		Revision as of 07:07, 2 January 2012
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	Images:		Images:
	*[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].		*[[WC]]:
	*[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].		**[http://commons.wikimedia.org/w/index.php?title=File:Gaucher_disease_-_very_high_mag.jpg Gaucher disease - with fine vesicular cytoplasm - very high mag. (WC)].
	*[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].		**[http://commons.wikimedia.org/wiki/File:Gaucher_disease_-_high_mag.jpg Gaucher disease - high mag. (WC)].
	*[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>		*www:
	*[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>		**[http://pathcuric1.swmed.edu/pathdemo/gen1/gen130.htm Gaucher disease - bone marrow aspirate (swmed.edu)].
			**[http://www.webpathology.com/image.asp?case=377&n=3 Gaucher disease (webpathology.com)].<ref name=webpath/>
			**[http://www.neuropathologyweb.org/chapter10/images10/10-GCl.jpg Gaucher disease (neuropathologyweb.org)].<ref>URL: [http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html http://www.neuropathologyweb.org/chapter10/chapter10bLSDs.html]. Accessed on: 30 November 2010.</ref>

	==Stains==		==Stains==

← Older revision		Revision as of 02:22, 29 November 2013
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	==See also==		==See also==
	*[[Fabry disease]].		*[[Fabry disease]].
			*[[Storage disorders]].

	==References==		==References==