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