Cryopyrin-associated periodic syndrome pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2]
Overview
The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood.
Pathophysiology
Physiology
Pathogenesis
- The exact pathogenesis of cryopyrin-associated periodic syndrome is not completely understood.
Genetics
- Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.[1][2]
- NLRP3 gene encoding a protein called cryopyrin (also known as nacht domain-, leucine-rich repeat- and pyrin domain-containing protein 3 [NALP3] or pyrin domain-containing apoptotic protease activating factor 1-like protein [PYPAF1] involved in the pathogenesis of this disorder.
- Cryopyrin is derived from the Greek words for icy cold and fire. The recurrent episodes of this disease are usually triggered by cold.
Associated Conditions
- Conditions associated with Familial Cold Autoinflammatory Syndrome (FCAS) include:[3]
- Mild hearing loss
- Conditions associated with Muckle-Wells Syndrome include:[4]
- Hearing loss
- Secondary amyloidosis
- Conditions associated with Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) include:[5][3]
- Developmental delay
- Seizure
- Hydrocephalus
- Chronic aseptic meningitis
- Uveitis
- Pericarditis
- Destructive arthropathy
- Secondary amyloidosis
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Hoffman, Hal M.; Mueller, James L.; Broide, David H.; Wanderer, Alan A.; Kolodner, Richard D. (2001). "Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome". Nature Genetics. 29 (3): 301–305. doi:10.1038/ng756. ISSN 1061-4036.
- ↑ Manthiram, Kalpana; Zhou, Qing; Aksentijevich, Ivona; Kastner, Daniel L (2017). "The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation". Nature Immunology. 18 (8): 832–842. doi:10.1038/ni.3777. ISSN 1529-2908.
- ↑ 3.0 3.1 Almeida de Jesus, Adriana; Goldbach-Mansky, Raphaela (2013). "Monogenic autoinflammatory diseases: Concept and clinical manifestations". Clinical Immunology. 147 (3): 155–174. doi:10.1016/j.clim.2013.03.016. ISSN 1521-6616.
- ↑ Yu, Justin R.; Leslie, Kieron S. (2010). "Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response". Current Allergy and Asthma Reports. 11 (1): 12–20. doi:10.1007/s11882-010-0160-9. ISSN 1529-7322.
- ↑ Kim, Hanna; Montealegre Sanchez, Gina A.; Chapelle, Dawn C.; Plass, Nicole; Dwyer, Andrew; Goldbach-Mansky, Raphaela; Hill, Suvimol (2014). "A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up". Arthritis & Rheumatology. 66: S113–S113. doi:10.1002/art.38496. ISSN 2326-5191.