RESUMO
BACKGROUND: There are few data about the epidemiology of acute anterior uveitis (AAU) from Latin America. In Cuba, the genetic admixture of the population could modify the HLA-B27-AAU association. In this study, the authors compared the distribution of the HLA-B27 allele in patients and controls and described some clinical outcomes. MATERIALS AND METHODS: The clinical features of patients were collected from their medical records. HLA-B27 genotyping was performed using the polymerase chain reaction. HLA-B27 allele distribution was compared between patients and controls. RESULTS: HLA-B27 allele was present in 55.4% of the patients and 0.87% of the controls. AAU HLA-B27 positivity was associated with males, frequent episodes, and a systemic disease. There is no difference in ocular complications between HLA-B27-positive and -negative patients. CONCLUSIONS: Results from this study are similar to data described in other countries. HLA-B27 allele distribution in controls is lower than other reports in Caucasian populations.
Assuntos
DNA/genética , Predisposição Genética para Doença , Antígeno HLA-B27/genética , Polimorfismo Genético , Uveíte Anterior/genética , Doença Aguda , Adulto , Idoso , Alelos , Cuba/epidemiologia , Feminino , Frequência do Gene , Genótipo , Antígeno HLA-B27/imunologia , Antígeno HLA-B27/metabolismo , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Uveíte Anterior/epidemiologia , Uveíte Anterior/imunologiaRESUMO
PURPOSE: Blau syndrome is a rare autosomal dominant disorder characterized by early onset granulomatous arthritis, uveitis, skin rash and camptodactyly. We report a familial case of Blau syndrome associated with a CARD15/NOD2 mutation. METHODS: PCR amplification and automated DNA sequencing of the complete CARD15/NOD2 coding sequence was performed. RESULTS: Molecular analysis in affected subjects disclosed a heterozygous c.1147G>C point mutation in CARD15/NOD2 exon 4, that predicts a p.E383K change at the protein level. CONCLUSIONS: Blau syndrome should be considered in the differential diagnosis of childhood uveitis and the genetic analysis of the CARD15/NOD2 gene is helpful in the diagnosis.
Assuntos
Artrite Reumatoide/genética , Exantema/genética , Artropatias/genética , Proteína Adaptadora de Sinalização NOD2/genética , Mutação Puntual , Uveíte Anterior/genética , Adulto , Feminino , Angiofluoresceinografia , Humanos , Linhagem , Reação em Cadeia da Polimerase , Recidiva , Síndrome , Adulto JovemRESUMO
To perform an investigation regarding the distribution of the human leukocyte antigen (HLA)-B27 subtypes in the Zulian population with ankylosing spondylitis (AS), 48 unrelated Mestizos, HLA-B27 positive by serology, were studied using the polymerase chain reaction-specific sequence oligonucleotides probe (PCR-SSOP) and specific sequence primers (SSP) to analyze the polymorphism in exons 2 and 3 of the HLA-B27 gene. Only two of eight HLA-B27 subtypes studied (B*2701-B*2708) were found. The distribution of these alleles in the population of patients was: B*2705, 68.8%, and B*2702, 31.2%. B*2705 subtype showed significant association with patients being male. In the healthy controls, the most common subtype was B*2708. These results were compared with frequencies reported in other Mestizo and Spanish populations and showed significant differences, such as a high frequency of B*2702. Such results show that HLA*B2705 and HLA*B2702 are the subtypes most frequently associated with AS in our Mestizo population and suggest a possible protector role for HLA*B2708, which was found only in the healthy population.
Assuntos
Predisposição Genética para Doença , Antígeno HLA-B27/genética , Espondilite Anquilosante/genética , Adolescente , Adulto , Envelhecimento , Alelos , População Negra , Primers do DNA , Etnicidade/genética , Feminino , Frequência do Gene , Genótipo , Antígeno HLA-B27/análise , Antígeno HLA-B27/classificação , Antígenos de Histocompatibilidade Classe I , Humanos , Indígenas Sul-Americanos/genética , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo Genético , Caracteres Sexuais , Espondilite Anquilosante/epidemiologia , Uveíte Anterior/epidemiologia , Uveíte Anterior/genética , Venezuela/epidemiologia , População BrancaRESUMO
OBJECTIVE: To analyze patterns of disease in a population of Brazilian patients with primary ankylosing spondylitis (AS). METHODS: Retrospective study (1988-98) analyzing 147 patients with a diagnosis of primary AS according to the modified New York criteria. Selected patients had complete clinical (initial symptom, axial and peripheral involvement, heel enthesitis, extraarticular manifestations) and radiological (sacroiliac, lumbar, thoracic, and cervical spine) investigations, and these data were compared with sex, race, age at onset, and HLA-B27. RESULTS: There was a predominance of men (84.4%), Caucasian race (75.5%), adult onset (> 16 years, 85%), and positive HLA-B27 (78.2%). Family history of AS was noted in 14.3% of the patients. Pure axial AS was observed in 37 patients (25.2%). The predominant initial symptoms were inflammatory low back pain (61.9%) and peripheral arthritis (22.4%). Thoracic and cervical spine involvement was noted in 70.1% of the patients; radiological findings included syndesmophytes in 46.9% and "bamboo spine" in 20.4% of patients. The extraaxial joints most frequently involved were: ankles (39.5%), hips (36.1%), knees (29.3%), shoulders (19%), and sternoclaviculars (14.3%); heel enthesitis was present in 22.4%. Acute anterior uveitis was noted in 14.3% of patients. Male sex was associated with involvement of thoracic spine (p = 0.002), cervical spine (p = 0.002), and hips (p = 0.042), whereas female sex was associated with sternoclavicular (p = 0.024) involvement. Caucasian race presented higher frequency of positive family history (p = 0.023); there was no statistical significance of clinical and radiological variables compared with African-Brazilians. Juvenile onset AS presented higher frequency of ankle (p = 0.012) and knee (p = 0.001) involvement, heel enthesitis (p = 0.001), and total hip replacement (p = 0.038), whereas adult onset was associated with thoracic (p = 0.026) and cervical spine (p = 0.026) involvement and positive family history (p = 0.044). Positive HLA-B27 was associated with ankle involvement (p = 0.007) and heel enthesitis (p = 0.013). CONCLUSION: In this population women showed a milder axial involvement, Caucasian race presented axial and peripheral involvement similar to African-Brazilians, juvenile onset AS was associated with articular involvement of the lower limbs, and positive HLA-B27 was associated with ankle involvement.
Assuntos
Espondilite Anquilosante/etnologia , Adolescente , Adulto , Idade de Início , Idoso , Articulação do Tornozelo , Brasil/epidemiologia , Feminino , Predisposição Genética para Doença , Antígeno HLA-B27/genética , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Articulação Sacroilíaca , Distribuição por Sexo , Espondilite Anquilosante/genética , Uveíte Anterior/etnologia , Uveíte Anterior/genéticaRESUMO
OBJECTIVE: We investigated the distribution of HLA-B27 subtypes in patients with ankylosing spondylitis (AS) belonging to two ethnic groups of Colombia. MATERIAL AND METHODS: PCR-SSOs was used to detect the polymorphism in exons 2 and 3 of HLA-B27 in two groups of patients: 39 Mulattos and 20 Mestizos. Fifty-nine of them suffered of ankylosing spondylitis (AS), including two patients with ankylosing spondylitis plus anterior uveitis (AU). Only two out of eight HLA-B27 subtypes studied (B*2701-B*2708) were found. RESULTS: The distribution of these alleles in the whole population was: B*2705: 87.1% and B*2702: 12.8% in the Mulattos group; 80% were B*2705 and 20% B*2702 in Mestizos group. The distribution of HLA-B27 subtypes was: 84.74% of patients with AS were B*2705 and 15.26% B*2702. CONCLUSIONS: There was no significant difference in the distribution of HLA-B27 subtypes among the patients ethnic groups studied. Other authors have shown that B*2705, B*2702 and B*2704, the more frequent subtypes, are equally associated to the disease. Although population studies need to be done to analyze the distribution of subtypes between patients and controls, the low frequency of HLA-B27 within the normal population does not permit to do a representative number of controls; our results suggest that HLA-B*2705 and HLA-B*2702 are the subtypes more frequently associated with AS in patients from the two more prevalent patients ethnic groups in Colombia.
Assuntos
Doenças Autoimunes/genética , Antígeno HLA-B27/genética , Espondilite Anquilosante/genética , Alelos , Doenças Autoimunes/epidemiologia , População Negra/genética , Colômbia/epidemiologia , Etnicidade/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Antígeno HLA-B27/análise , Antígeno HLA-B27/classificação , Humanos , Indígenas Sul-Americanos/genética , Casamento , Reação em Cadeia da Polimerase , Polimorfismo Genético , Espondilite Anquilosante/epidemiologia , Uveíte Anterior/epidemiologia , Uveíte Anterior/genética , População Branca/genéticaRESUMO
Introdução - As uveítes anteriores agudas (UAA) são a foram mais frequente de inflamação do trato uveal e grande proporção dessas está associada à presença do alelo B27 com ou sem espondiloartropatia. Acredita-se que a presença do HLA-27 esteja associada a particularidades clínicas e imunológicas. Objetivos - Estudar pacientes com uveíte anterior aguda HLA-B27 e HLA-B27 quanto à frequência e especificidade de auto-anticorpos órgão-epecíficos e não órgão-específicos. Métodos - Cinquenta e sete pacientes com uveíte anterior aguda foram avaliados por oftalmologista e pelo reumatologista, que realizaram os seguintes testes laboratoriais: immunoblot para anticorpos anti-células HeLa e antiextrato de íris bovina. A pesquisa do HLA-B27 foi realizada por microlinfotoxicidade. A análise estatística foi feita usando-se o teste de Mann-Whitney, teste do qui-quadrado, teste exato de Fisher e o teste de McNemar. Resultados - Dentre so 57 pacientes, 34 possuíam o alelo HLA-B27 (UAA-B27) e 23 não tinham esse alelo (UAA-B27-). Pela técnica de immunoblot com extrato total de células HeLa, no grupo UAA-B27, mas não no grupo UAA-B27, evidenciou-se alta frequência de anticorpos, contra proteínas de diferentes pesos moleculares; as reatividades mais frequentes foram contra proteínas de 46 e 56kDa. Por outro lado, o immunoblot com extrato total de íris evidenciou alta frequência de reatividade nos soros dos dois grupos de pacientes; as reatividades mais frequentes foram as de peso molecular estimado em 35,52 e 54kDa. Conclusão - A UAA, associada ao alelo HLA-B27, apresentou menor expressão de auto-anticorpos não específicos ao tecido uveal. Por outro lado, a expressão de anticorpos antiíris associou-se a UAA, independentemente da presença do alelo HLA-B27
Assuntos
Humanos , Masculino , Feminino , Autoanticorpos , Uveíte Anterior/genéticaRESUMO
INTRODUCTION: An association between polymorphism of the HLA linked LMP2 locus and the development of acute anterior uveitis (AAU) has previously been described in B27 positive white subjects with ankylosing spondylitis (AS). This study evaluated LMP2 alleles in two HLA-B27 positive Mexican populations of patients with spondyloarthropathy known to have a different clinical spectrum of disease from white people. PATIENTS AND METHODS: The study populations consisted of 90 AS patients from Guadalajara with predominantly adult onset disease and 80 AS patients from Mexico City with predominantly juvenile onset disease. LMP2-CfoI amplified fragment length polymorphisms were determined after polymerase chain reaction amplification and digestion with CfoI restriction enzyme. RESULTS: There was an increased LMP2A allelic frequency in patients who had had AAU in both Guadalajara (31.8%) and Mexico City (33.3%) when compared with non-AAU patients (15.2% and 17.7% of Guadalajara and Mexico City populations, respectively). The odds ratio relating LMP2A allelic frequency and AAU for the combined population, stratified by age at onset of disease, was 2.51 (p = 0.01). LMP2 alleles did not influence the age at onset of disease or the development of peripheral arthritis. CONCLUSIONS: These data support the view that polymorphism at the LMP2 locus is associated with the development of AAU in B27 positive subjects with AS. The requirement for both the less common LMP2 allele and HLA-B27 is consistent with the low prevalence of AAU in Mexican patients with spondyloarthritis.