RESUMO
Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. High-dose intravenous immunoglobulin (IVIG) is the most effective therapy for KD to reduce the prevalence of coronary artery lesion (CAL) formation. Recently, the α2, 6 sialylated IgG was reported to interact with a lectin receptor, specific intracellular adhesion molecule-3 grabbing nonintegrin homolog-related 1 (SIGN-R1) in mice and dendritic cell-specific intercellular adhesion molecule-3 grabbing nonintegrin (DC-SIGN) in human, and to trigger an anti-inflammatory cascade. This study was conducted to investigate whether the polymorphism of DC-SIGN (CD209) promoter -336 A/G (rs4804803) is responsible for susceptibility and CAL formation in KD patients using Custom TaqMan SNP Genotyping Assays. A total of 521 subjects (278 KD patients and 243 controls) were investigated to identify an SNP of rs4804803, and they were studied and showed a significant association between the genotypes and allele frequency of rs4804803 in control subjects and KD patients (P = 0.004 under the dominant model). However, the promoter variant of DC-SIGN gene was not associated with the occurrence of IVIG resistance, CAL formation in KD. The G allele of DC-SIGN promoter -336 (rs4804803) is a risk allele in the development of KD.
Assuntos
Moléculas de Adesão Celular/genética , Predisposição Genética para Doença/genética , Lectinas Tipo C/genética , Síndrome de Linfonodos Mucocutâneos/epidemiologia , Síndrome de Linfonodos Mucocutâneos/genética , Polimorfismo de Nucleotídeo Único/genética , Receptores de Superfície Celular/genética , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Regiões Promotoras Genéticas/genética , Medição de Risco , Fatores de Risco , Taiwan/epidemiologia , Adulto JovemRESUMO
Kawasaki disease (KD) is a systemic vasculitis associated with cardiovascular symptom. A previous study in the European descent has indicated that genetic variants of the transforming growth factor-ß (TGF-ß) pathway are involved in the KD susceptibility and clinical status. This study was conducted to investigate if polymorphisms in TGF-ß signaling pathway are associated with KD susceptibility, and the coronary artery lesion formation. A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 12 single-nucleotide polymorphisms in the TGF-ß signaling pathway (rs2796817, rs10482751, rs2027567, rs12029576, rs11466480, rs4776338, rs12901071, rs7162912, rs1438386, rs6494633, rs12910698 and rs4776339) by using TaqMan Allelic Discrimination assay. Our results indicated that rs1438386 in the SMAD3 is significantly associated with the susceptibility of KD. Additionally, both haplotypes of TGFß2 and SMAD3 were also associated with the risk of KD. This study showed that genetic polymorphisms in TGF-ß signaling pathway are associated with KD susceptibility, but not coronary artery lesions formation, or intravenous immunoglobulin treatment response in the Taiwanese population.
Assuntos
Síndrome de Linfonodos Mucocutâneos/genética , Polimorfismo de Nucleotídeo Único , Transdução de Sinais/genética , Fator de Crescimento Transformador beta/genética , Adolescente , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Criança , Pré-Escolar , Vasos Coronários/patologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Receptores de Fatores de Crescimento Transformadores beta/genética , Proteína Smad3/genética , Taiwan , Adulto JovemRESUMO
Kawasaki disease (KD) is an acute febrile multi-systemic vasculitis of unknown etiology that primarily affects children under 5 years of age. KD has been singled out as a main cause of acquired childhood heart disease. Its etiology, genetic background, and immunopathogenesis remain unclear. Diagnosing and providing nursing care to KD patients, especially those suffering from atypical KD, present a challenge for clinicians and nurses. This report is a literature review covering pathogenesis, clinical presentation, atypical symptoms, differential diagnosis, treatment and nursing of KD and atypical KD. This review provides updated information for clinicians and nurses with care responsibilities for patients with KD and atypical KD.