Update of genetic susceptibility in patients with Kawasaki disease

Yoon, Kyung Lim

doi:10.3345/kjp.2015.58.3.84

Cited by 31 publications

(28 citation statements)

References 39 publications

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“…The ITPKC gene codes for one of the three isoenzymes of inositol 1,4,5-triphosphate 3-kinase that is involved in the Ca 2+ /nuclear factors of activated T- cells (NFAT) signaling pathway in T cells [29]. It functions as a negative regulator of T cell activation [29].…”

Section: Etiopathogenesismentioning

confidence: 99%

“…It functions as a negative regulator of T cell activation [29]. Onouchi et al in 2008 reported that single nucleotide polymorphisms (SNPs) in ITPKC on chromosome 19q13.2 were associated with susceptibility to KD and risk of coronary artery abnormalities in Japanese and American children (rs28493229) [30].…”

Section: Etiopathogenesismentioning

confidence: 99%

“…This inhibits T cell apoptosis and causes prolonged activation of immune cells which in turn, might increase the susceptibility to KD. But, this CASP3 polymorphism was not found to be associated with the risk of CAAs or response to IVIG treatment [29, 31]. …”

Section: Etiopathogenesismentioning

confidence: 99%

“…Another gene found to be strongly associated with KD is the Fc fragment of IgG, low affinity IIa, receptor (FCGR2A) gene [29]. It is expressed on the surface of immune cells like, dendritic cells, macrophages, monocytes and neutrophils and transduces activation signals into cells on binding with immune complexes [27].…”

Section: Etiopathogenesismentioning

confidence: 99%

“…B-lymphocyte kinase (BLK) SNPs have also been implicated in KD based on studies in Japanese, Taiwanese, Korean and Asian population [29]. BLK is a tyrosine kinase expressed mainly on the B cells where it is involved in signal transduction [27].…”

Section: Etiopathogenesismentioning

confidence: 99%

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Kawasaki disease: etiopathogenesis and novel treatment strategies

Agarwal

Agrawal

2016

Expert Review of Clinical Immunology

164

113

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Introduction-Kawasaki disease is an acute febrile systemic vasculitis that predominantly occurs in children below five years of age. Its etiopathogenesis is still not clear, but it is thought to be a complex interplay of genetic factors, infections and immunity.Areas covered-This review article discusses in detail Kawasaki disease, with particular emphasis on the recent updates on its pathogenesis and upcoming alternate treatment options. Though self-limiting in many cases, it can lead to severe complications like coronary artery aneurysms and thrombo-embolic occlusions, and hence requires early diagnosis and urgent attention to avoid them. Intravenous immunoglobulin (IVIG) with or without aspirin has remained the sole treatment option for these cases, but 10-15% cases develop resistance to this treatment.Expert Commentary-There is a need to develop additional treatment strategies for children with Kawasaki disease. Targeting different steps of pathogenesis could provide us with alternate therapeutic options.

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Section: Etiopathogenesismentioning

confidence: 99%

Section: Etiopathogenesismentioning

confidence: 99%

Section: Etiopathogenesismentioning

confidence: 99%

Section: Etiopathogenesismentioning

confidence: 99%

Section: Etiopathogenesismentioning

confidence: 99%

See 3 more Smart Citations

Kawasaki disease: etiopathogenesis and novel treatment strategies

Agarwal

Agrawal

2016

Expert Review of Clinical Immunology

164

113

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Dissecting Kawasaki disease: a state-of-the-art review

et al. 2017

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Kawasaki disease (KD) is a pediatric vasculitis with coronary artery aneurysms (CAA) as its main complication. The diagnosis is based on the presence of persistent fever and clinical features including exanthema, lymphadenopathy, conjunctival injection, and changes to the mucosae and extremities. Although the etiology remains unknown, the current consensus is that it is likely caused by an (infectious) trigger initiating an abnormal immune response in genetically predisposed children. Treatment consists of high dose intravenous immunoglobulin (IVIG) and is directed at preventing the development of CAA. Unfortunately, 10–20% of all patients fail to respond to IVIG and these children need additional anti-inflammatory treatment. Coronary artery lesions are diagnosed by echocardiography in the acute and subacute phases. Both absolute arterial diameters and z-scores, adjusted for height and weight, are used as criteria for CAA. Close monitoring of CAA is important as ischemic symptoms or myocardial infarction due to thrombosis or stenosis can occur. These complications are most likely to arise in the largest, so-called giant CAA. Apart from the presence of CAA, it is unclear whether KD causes an increased cardiovascular risk due to the vasculitis itself. Conclusion: Many aspects of KD remain unknown, although there is growing knowledge on the etiology, treatment, and development and classification of CAA. Since children with previous KD are entering adulthood, long-term follow-up is increasingly important. What is known: • Kawasaki disease (KD) is a pediatric vasculitis with coronary artery damage as its main complication. • Although KD approaches its 50th birthday since its first description, many aspects of the disease remain poorly understood. What is new: • In recent years, multiple genetic candidate pathways involved in KD have been identified, with recently promising information about the ITPKC pathway. • As increasing numbers of KD patients are reaching adulthood, increasing information is available about the long-term consequences of coronary artery damage and broader cardiovascular risk.

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