Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

Choi, YoungRok; Shim, Kye Sik; Yoon, Kyung Lim; Han, Mi Young; Ho, Sung; Kim, Su Kang; Jung, Joo Ho

doi:10.3345/kjp.2012.55.1.18

Cited by 18 publications

(12 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our previous study 22) , 1 SNP (rs6550004) of TGFBR2 gene was associated with the development of KD. One SNP (rs1495592), formerly classified as of the TGFBR2 gene, was associated with the development of CAL in patients with KD; it was subsequently reclassified as having an unknown function.…”

Section: Tgf-β Signaling Pathwaymentioning

confidence: 85%

Update of genetic susceptibility in patients with Kawasaki disease

Yoon

2015

Korean J Pediatr

Self Cite

View full text Add to dashboard Cite

Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects children, and can result in coronary artery lesions (CAL). A patient with KD who is resistant to treatment with intravenous immunoglobulin (IVIG) has a higher risk of developing CAL. Incomplete KD has increased in prevalence in recent years, and is another risk factor for the development of CAL. Although the pathogenesis of KD remains unclear, there has been increasing evidence for the role of genetic susceptibility to the disease since it was discovered in 1967. We retrospectively reviewed previous genetic research for known susceptibility genes in the pathogenesis of KD, IVIG resistance, and the development of CAL. This review revealed numerous potential susceptibility genes including genetic polymorphisms of ITPKC, CASP3, the transforming growth factor-β signaling pathway, B lymphoid tyrosine kinase, FCGR2A, KCNN2, and other genes, an imbalance of Th17/Treg, and a range of suggested future treatment options. The results of genetic research may improve our understanding of the pathogenesis of KD, and aid in the discovery of new treatment modalities for high-risk patients with KD.

show abstract

Section: Tgf-β Signaling Pathwaymentioning

confidence: 85%

Update of genetic susceptibility in patients with Kawasaki disease

Yoon

2015

Korean J Pediatr

Self Cite

View full text Add to dashboard Cite

show abstract

“…set 2)276/282““xOnouchi et al [92] (Indep. set 3)267/752““xOnouchi et al [95]546/947Yes ( ITPKC )Yes ( ITPKC ) i Yes ( ITPKC ) i ChinesePeng et al [97]223/318Yes ( ITPKC )Yes (ITPKC)NoKhor et al [61]130/568Yes ( ITPKC )xxTaiwaneseChi et al [18]385 (of which 158 trios)/1158NoNoxLin et al [73]280/492Yes ( ITPKC )NoxKuo et al [71]341/1190Yes ( ITPKC )Yes ( ITPKC ) j NoAbove-mentioned studies combined999/2781Yes ( ITPKC )xxKuo et al [68]381/569No k Yes ( ITPKC )xKhor et al [61]438/446Yes ( ITPKC )xxEuropeanKhor et al [61] (GWAS)405/6252 (10)Yes ( ITPKC )xxKhor et al [61] (Replication) 605 trios, 139 siblings l “xxUSOnouchi et al [92]209 triosYes ( ITPKC )Yes ( ITPKC )Yes ( ITPKC )TGF-β pathwayJapaneseCho et al [20]105/303Yes ( SMAD5 )NoxHan ChinesePeng et al [98]392/421Yes ( TGFB2 , SMAD3 , ADAM17 )Yes ( TGFB2 )NoTaiwaneseKuo et al [70]381/569Yes ( SMAD3 )NoNoKoreanChoi et al [21]105/500Yes ( TGFBR2 )Yes ( TGFBR2 )xEuropean descent…”

Section: Geneticsmentioning

confidence: 99%

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

et al. 2017

View full text Add to dashboard Cite

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.

show abstract

“…If coronary abnormalities are present, the diagnosis of KD can be set even when less than four of the aforementioned criteria are met [ 5 , 27 ]. Susceptibility to coronary artery lesions formation has been associated in various populations with specific single nucleotide polymorphisms in a wide range of genes, such as ITPKC [ 19 ], IL-10 [ 28 ], TGFBR2 [ 29 ], DC-SIGN [ 30 ] and KCNN2 [ 31 ]. Arteries other than the coronary ones are also affected by the disease: a hepatic artery aneurysm [ 32 ], a left humeral artery aneurysm, with absence of flow in the antebrachial arteries causing a peripheral gangrene [ 33 ], a proximal gastroduodenal artery occlusion, and a mildly irregular splenic artery associated with obstruction of the distal intrasplenic branches [ 34 ] are described in the literature.…”

Section: Introductionmentioning

confidence: 99%

Adult Kawasaki disease in a European patient: a case report and review of the literature

et al. 2015

View full text Add to dashboard Cite

IntroductionKawasaki disease is an acute necrotising vasculitis of the medium- and small-sized vessels, occurring mainly in Japanese and Korean babies and children, aged 6 months to 5 years. Its main complication is damage of coronary arteries, which has the potential to be fatal. Here we report a rare case of Kawasaki disease that occurred in a 20-year-old Greek adult.Case presentationA 20-year-old Greek man presented with high fever, appetite loss, nausea and vomiting, headache and significant malaise. He had an erythema of the palms and strikingly red lips and conjunctiva. As he did not respond to broad-spectrum antibiotics and after having excluded other possible diagnoses, the diagnosis of Kawasaki disease was set. He was treated with intravenous immunoglobulin and oral aspirin on the 10th day since the onset of the illness. His clinico-laboratory response was excellent and no coronary artery aneurysms were detected in coronary artery computed tomography performed 1 month later.ConclusionsThis report of an adult case of European Kawasaki disease may be of benefit to physicians of various specialties, including primary care doctors, hospital internists, intensivists and cardiologists. It demonstrates that a case of prolonged fever, unresponsive to antibiotics, in the absence of other diagnoses may be an incident of Kawasaki disease. It is worth stressing that such a diagnosis should be considered, even if the patient is adult and not of Asian lineage.

show abstract

Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease

Cited by 18 publications

References 33 publications

Update of genetic susceptibility in patients with Kawasaki disease

Update of genetic susceptibility in patients with Kawasaki disease

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

Adult Kawasaki disease in a European patient: a case report and review of the literature

Contact Info

Product

Resources

About