Cryopyrin-associated periodic syndrome pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. | The exact pathogenesis of cryopyrin-associated periodic syndrome is not fully understood. | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Physiology=== | |||
===Pathogenesis=== | ===Pathogenesis=== | ||
*The exact pathogenesis of cryopyrin-associated periodic syndrome is not completely understood. | *The exact pathogenesis of cryopyrin-associated periodic syndrome is not completely understood. | ||
==Genetics== | ==Genetics== | ||
*Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="ManthiramZhou2017">{{cite journal|last1=Manthiram|first1=Kalpana|last2=Zhou|first2=Qing|last3=Aksentijevich|first3=Ivona|last4=Kastner|first4=Daniel L|title=The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation|journal=Nature Immunology|volume=18|issue=8|year=2017|pages=832–842|issn=1529-2908|doi=10.1038/ni.3777}}</ref> | *Cryopyrin-associated periodic syndrome is transmitted in the autosomal dominant pattern.<ref name="HoffmanMueller2001">{{cite journal|last1=Hoffman|first1=Hal M.|last2=Mueller|first2=James L.|last3=Broide|first3=David H.|last4=Wanderer|first4=Alan A.|last5=Kolodner|first5=Richard D.|title=Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome|journal=Nature Genetics|volume=29|issue=3|year=2001|pages=301–305|issn=1061-4036|doi=10.1038/ng756}}</ref><ref name="ManthiramZhou2017">{{cite journal|last1=Manthiram|first1=Kalpana|last2=Zhou|first2=Qing|last3=Aksentijevich|first3=Ivona|last4=Kastner|first4=Daniel L|title=The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation|journal=Nature Immunology|volume=18|issue=8|year=2017|pages=832–842|issn=1529-2908|doi=10.1038/ni.3777}}</ref> | ||
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==Associated Conditions== | ==Associated Conditions== | ||
*Conditions associated with | *Conditions associated with Familial Cold Autoinflammatory Syndrome (FCAS) include:<ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | ||
**Mild hearing loss | |||
*Conditions associated with Muckle-Wells Syndrome include:<ref name="YuLeslie2010">{{cite journal|last1=Yu|first1=Justin R.|last2=Leslie|first2=Kieron S.|title=Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response|journal=Current Allergy and Asthma Reports|volume=11|issue=1|year=2010|pages=12–20|issn=1529-7322|doi=10.1007/s11882-010-0160-9}}</ref> | |||
== | **Hearing loss | ||
**Secondary amyloidosis | |||
*Conditions associated with Neonatal Onset Multisystem Autoinflammatory Disease (NOMID) include:<ref name="KimMontealegre Sanchez2014">{{cite journal|last1=Kim|first1=Hanna|last2=Montealegre Sanchez|first2=Gina A.|last3=Chapelle|first3=Dawn C.|last4=Plass|first4=Nicole|last5=Dwyer|first5=Andrew|last6=Goldbach-Mansky|first6=Raphaela|last7=Hill|first7=Suvimol|title=A80: Skeletal Features of Neonatal-Onset Multisystem Inflammatory Disease (NOMID) on Anakinra Treatment: Long-Term Follow-up|journal=Arthritis & Rheumatology|volume=66|year=2014|pages=S113–S113|issn=23265191|doi=10.1002/art.38496}}</ref><ref name="Almeida de JesusGoldbach-Mansky2013">{{cite journal|last1=Almeida de Jesus|first1=Adriana|last2=Goldbach-Mansky|first2=Raphaela|title=Monogenic autoinflammatory diseases: Concept and clinical manifestations|journal=Clinical Immunology|volume=147|issue=3|year=2013|pages=155–174|issn=15216616|doi=10.1016/j.clim.2013.03.016}}</ref> | |||
**Developmental delay | |||
**Seizure | |||
**Hydrocephalus | |||
**Chronic aseptic meningitis | |||
**Uveitis | |||
**Pericarditis | |||
**Destructive arthropathy | |||
**Secondary amyloidosis | |||
==Microscopic Pathology== | ==Microscopic Pathology== | ||
Revision as of 20:50, 11 July 2019
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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.