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Difference between revisions of "Gaucher disease"
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'''Gaucher disease''' | '''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 marry their cousins. | ||
==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> | ||
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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=== | ||
<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) | |||
</gallery> | |||
www: | |||
*[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== | ||
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==See also== | ==See also== | ||
*[[Fabry disease]]. | *[[Fabry disease]]. | ||
*[[Storage disorders]]. | |||
==References== | ==References== | ||