Kawasaki disease pathophysiology

Kawasaki disease Microchapters
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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
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 al2011
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 al62 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.

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].