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Difference between revisions of "Chronic granulomatous disease"
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Chronic granulomatous disease (view source)
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'''Chronic granulomatous disease''', abbreviated '''CGD''', is a specific diagnosis; it should ''not'' be understood as a granulomatous disease that is of a long duration. | '''Chronic granulomatous disease''', abbreviated '''CGD''', is a specific diagnosis; it should ''not'' be understood as a granulomatous disease that is of a long duration. | ||
CGD is disorder of | CGD is disorder of [[neutrophil]]s,<ref name=pmid19098859/> and typically leads to widespread [[granuloma]]s.<ref name=pmid21116026>{{cite journal |author=Seger RA |title=Chronic granulomatous disease: recent advances in pathophysiology and treatment |journal=Neth J Med |volume=68 |issue=11 |pages=334–40 |year=2010 |month=November |pmid=21116026 |doi= |url=}}</ref> | ||
==General== | ==General== | ||
*Five different genetic defects have been identified that cause the disease. | *Five different genetic defects have been identified that cause the disease. | ||
*Individual with the condition have an increased susceptibility to infections. | *Individual with the condition have an increased susceptibility to infections. | ||
*Usually presents in infancy or childhood.<ref name=pmid21624140>{{Cite journal | last1 = Song | first1 = E. | last2 = Jaishankar | first2 = GB. | last3 = Saleh | first3 = H. | last4 = Jithpratuck | first4 = W. | last5 = Sahni | first5 = R. | last6 = Krishnaswamy | first6 = G. | title = Chronic granulomatous disease: a review of the infectious and inflammatory complications. | journal = Clin Mol Allergy | volume = 9 | issue = 1 | pages = 10 | month = | year = 2011 | doi = 10.1186/1476-7961-9-10 | PMID = 21624140 }}</ref> | |||
*Incidence estimated at 1/200,000-1/250,000.<ref name=pmid10844935>{{Cite journal | last1 = Winkelstein | first1 = JA. | last2 = Marino | first2 = MC. | last3 = Johnston | first3 = RB. | last4 = Boyle | first4 = J. | last5 = Curnutte | first5 = J. | last6 = Gallin | first6 = JI. | last7 = Malech | first7 = HL. | last8 = Holland | first8 = SM. | last9 = Ochs | first9 = H. | title = Chronic granulomatous disease. Report on a national registry of 368 patients. | journal = Medicine (Baltimore) | volume = 79 | issue = 3 | pages = 155-69 | month = May | year = 2000 | doi = | PMID = 10844935 }}</ref> | |||
==Microscopic== | ==Microscopic== | ||
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DDx: | DDx: | ||
*[[Crohn's disease]] - essentially indistinguishable histomorphologically in the GI tract.{{Cite journal | last1 = Marks | first1 = DJ. | last2 = Miyagi | first2 = K. | last3 = Rahman | first3 = FZ. | last4 = Novelli | first4 = M. | last5 = Bloom | first5 = SL. | last6 = Segal | first6 = AW. | title = Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. | journal = Am J Gastroenterol | volume = 104 | issue = 1 | pages = 117-24 | month = Jan | year = 2009 | doi = 10.1038/ajg.2008.72 | PMID = 19098859 }}</ref> | *[[Crohn's disease]] - essentially indistinguishable histomorphologically in the GI tract.<ref name=pmid19098859>{{Cite journal | last1 = Marks | first1 = DJ. | last2 = Miyagi | first2 = K. | last3 = Rahman | first3 = FZ. | last4 = Novelli | first4 = M. | last5 = Bloom | first5 = SL. | last6 = Segal | first6 = AW. | title = Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease. | journal = Am J Gastroenterol | volume = 104 | issue = 1 | pages = 117-24 | month = Jan | year = 2009 | doi = 10.1038/ajg.2008.72 | PMID = 19098859 }}</ref> | ||
==References== | ==References== | ||