Kawasaki disease pathophysiology: Difference between revisions
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| style="background:#DCDCDC;" |Mediates apoptosis in immune cells and cardiomyocytes | | style="background:#DCDCDC;" |Mediates apoptosis in immune cells and cardiomyocytes | ||
Risk allele decreases gene transcription | Risk allele decreases gene transcription | ||
| style="background:#DCDCDC;" |Onouchi et | | style="background:#DCDCDC;" |Onouchi et al<ref name="OnouchiOzaki2010">{{cite journal|last1=Onouchi|first1=Yoshihiro|last2=Ozaki|first2=Kouichi|last3=Buns|first3=Jane C.|last4=Shimizu|first4=Chisato|last5=Hamada|first5=Hiromichi|last6=Honda|first6=Takafumi|last7=Terai|first7=Masaru|last8=Honda|first8=Akihito|last9=Takeuchi|first9=Takashi|last10=Shibuta|first10=Shoichi|last11=Suenaga|first11=Tomohiro|last12=Suzuki|first12=Hiroyuki|last13=Higashi|first13=Kouji|last14=Yasukawa|first14=Kumi|last15=Suzuki|first15=Yoichi|last16=Sasago|first16=Kumiko|last17=Kemmotsu|first17=Yasushi|last18=Takatsuki|first18=Shinichi|last19=Saji|first19=Tsutomu|last20=Yoshikawa|first20=Tetsushi|last21=Nagai|first21=Toshiro|last22=Hamamoto|first22=Kunihiro|last23=Kishi|first23=Fumio|last24=Ouchi|first24=Kazunobu|last25=Sato|first25=Yoshitake|last26=Newburger|first26=Jane W.|last27=Baker|first27=Annette L.|last28=Shulman|first28=Stanford T.|last29=Rowley|first29=Anne H.|last30=Yashiro|first30=Mayumi|last31=Nakamura|first31=Yoshikazu|last32=Wakui|first32=Keiko|last33=Fukushima|first33=Yoshimitsu|last34=Fujino|first34=Akihiro|last35=Tsunoda|first35=Tatsuhiko|last36=Kawasaki|first36=Tomisaku|last37=Hata|first37=Akira|last38=Nakamura|first38=Yusuke|last39=Tanaka|first39=Toshihiro|title=Common variants in CASP3 confer susceptibility to Kawasaki disease|journal=Human Molecular Genetics|volume=19|issue=14|year=2010|pages=2898–2906|issn=1460-2083|doi=10.1093/hmg/ddq176}}</ref> 2010 | ||
|- | |- | ||
| style="background:#DCDCDC;" |''HLA''class II | | style="background:#DCDCDC;" |''HLA''class II |
Revision as of 18:50, 10 April 2018
Kawasaki disease Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
American Roentgen Ray Society Images of Kawasaki disease pathophysiology |
Risk calculators and risk factors for Kawasaki disease pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- The exact pathogenesis of [disease name] is not fully understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics
.
Genes Implicated in Susceptibility to KD With Replication in Independent Cohorts
Adapted from the AHA Scientific Statement on the diagnosis, treatment, and long term management of Kawasaki disease[1] | |||||
Gene | Chromosome Location | Genetic Methods | Validation Populations | Potential Significance | Reference and Year |
---|---|---|---|---|---|
FCGR2A | 1q23 | GWAS | European descent, Taiwanese, Koreans, Han Chinese | Low-affinity receptor for Fc fragment of IgG; risk allele has lower binding affinity | Khor et al[2]2011 |
CASP3 | 4q34-35 | Linkage analysis
Candidate gene study |
Japanese, Taiwanese, Koreans, Chinese, Euro-Americans | Mediates apoptosis in immune cells and cardiomyocytes
Risk allele decreases gene transcription |
Onouchi et al[3] 2010 |
HLAclass II | 6p21.3 | GWAS | Japanese, Taiwanese, Koreans | Activation marker for immune cells; antigen presentation | Onouchi et al63 2012 |
BLK | 8p23-22 | GWAS | Japanese, Taiwanese, Koreans | B-cell receptor signal transduction | Onouchi et al63 2012 |
IPTKC | 19q13.2 | Linkage analysis
TDT |
Japanese, Taiwanese, Koreans, Chinese, Euro- Americans | Negative regulator of calcineurin-NFAT signaling pathway; risk allele increases signaling | Onouchi et al64 2008 |
CD40 | 20q12-13.2 | GWAS | Japanese, Taiwanese, Koreans | Risk alleles associated with increased translation | Onouchi et al63 2012 |
BLK indicates B-cell lymphoid kinase; CASP3, caspase 3; FCGR, Fcγ receptor; GWAS, genome-wide association study; HLA, human leukocyte antigen; IgG, immunoglobulin G; ITPKC, inositol 1,4,5-trisphosphate kinase-C; KD, Kawasaki disease; NFAT, nuclear factor of activated T cells; and TDT, transmission disequilibrium test. |
Associated Conditions
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ McCrindle, Brian W.; Rowley, Anne H.; Newburger, Jane W.; Burns, Jane C.; Bolger, Anne F.; Gewitz, Michael; Baker, Annette L.; Jackson, Mary Anne; Takahashi, Masato; Shah, Pinak B.; Kobayashi, Tohru; Wu, Mei-Hwan; Saji, Tsutomu T.; Pahl, Elfriede (2017). "Diagnosis, Treatment, and Long-Term Management of Kawasaki Disease: A Scientific Statement for Health Professionals From the American Heart Association". Circulation. 135 (17): e927–e999. doi:10.1161/CIR.0000000000000484. ISSN 0009-7322.
- ↑ Khor, C. C.; Davila, S.; Shimizu, C.; Sheng, S.; Matsubara, T.; Suzuki, Y.; Newburger, J. W.; Baker, A.; Burgner, D.; Breunis, W.; Kuijpers, T.; Wright, V. J.; Levin, M.; Hibberd, M. L.; Burns, J. C. (2011). "Genome-wide linkage and association mapping identify susceptibility alleles in ABCC4 for Kawasaki disease". Journal of Medical Genetics. 48 (7): 467–472. doi:10.1136/jmg.2010.086611. ISSN 0022-2593.
- ↑ Onouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro (2010). "Common variants in CASP3 confer susceptibility to Kawasaki disease". Human Molecular Genetics. 19 (14): 2898–2906. doi:10.1093/hmg/ddq176. ISSN 1460-2083.