Chronic granulomatous disease
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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.
CGD is disorder of neutrophils,[1] and typically leads to widespread granulomas.[2]
General
- Five different genetic defects have been identified that cause the disease.
- Individual with the condition have an increased susceptibility to infections.
- Usually presents in infancy or childhood.[3]
- Incidence estimated at 1/200,000-1/250,000.[4]
Microscopic
Features:
- Granulomas - see Basics.
DDx:
- Crohn's disease - essentially indistinguishable histomorphologically in the GI tract.[1]
References
- ↑ 1.0 1.1 Marks, DJ.; Miyagi, K.; Rahman, FZ.; Novelli, M.; Bloom, SL.; Segal, AW. (Jan 2009). "Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn's disease.". Am J Gastroenterol 104 (1): 117-24. doi:10.1038/ajg.2008.72. PMID 19098859.
- ↑ Seger RA (November 2010). "Chronic granulomatous disease: recent advances in pathophysiology and treatment". Neth J Med 68 (11): 334–40. PMID 21116026.
- ↑ Song, E.; Jaishankar, GB.; Saleh, H.; Jithpratuck, W.; Sahni, R.; Krishnaswamy, G. (2011). "Chronic granulomatous disease: a review of the infectious and inflammatory complications.". Clin Mol Allergy 9 (1): 10. doi:10.1186/1476-7961-9-10. PMID 21624140.
- ↑ Winkelstein, JA.; Marino, MC.; Johnston, RB.; Boyle, J.; Curnutte, J.; Gallin, JI.; Malech, HL.; Holland, SM. et al. (May 2000). "Chronic granulomatous disease. Report on a national registry of 368 patients.". Medicine (Baltimore) 79 (3): 155-69. PMID 10844935.