Assuntos
Acenocumarol/administração & dosagem , Anticoagulantes/administração & dosagem , Citocromo P-450 CYP3A/genética , Sistema Enzimático do Citocromo P-450/genética , Esquema de Medicação , Femprocumona/administração & dosagem , Algoritmos , Transtornos da Coagulação Sanguínea/tratamento farmacológico , Transtornos da Coagulação Sanguínea/genética , Estudos Transversais , Família 4 do Citocromo P450 , Genótipo , Humanos , Farmacogenética , Polimorfismo de Nucleotídeo Único , Doenças Vasculares/genética , Doenças Vasculares/prevenção & controleRESUMO
PURPOSE OF STUDY: Pemphigus is a group of autoimmune bullous dermatosis diseases characterized by autoantibodies against keratinocyte adhesion molecule. A significant association with HLA class II genes, particularly DR4 and DR14 has been described in many ethnic groups and countries. We have investigated, for the first time in Morocco the relationship between different pemphigus subtypes and HLA genes. PATIENTS AND METHODS: Fifty-two unrelated patients were compared to 178 healthy controls matched by age, sex and ethnic origin. HLA typing was performed by standard complement dependent microlymphocytotoxic method for class I and by sequence-specific primer amplification method for class II. RESULTS: No significant association was observed with any of the HLA-A or -B antigens. Generic typing showed a significant increase of DRB1*04 (p=0.002), DRB1*14 (p=0.003) and DQB1*03 (p=0.02) allele frequencies and significant decrease of DRB1*15 (p<0.0001) and DQB1*06 (p=0.01) allele frequencies. HLA-DRB1*15-DQB1*06 haplotype seems to confer a protective effect in our population while DRB1*04-DQB1*03 and DRB1*14-DQB1*05 haplotypes induced susceptibility to the disease. CONCLUSION: Taken together, our results confirmed the genetic predisposition to pemphigus. However, genetic factors are not sufficient to explain the high prevalence of pemphigus observed in the Moroccan population since alleles of susceptibility were similar to those commonly described in other populations throughout the world.
Assuntos
Antígenos HLA/genética , Pênfigo/epidemiologia , Pênfigo/imunologia , Intervalos de Confiança , Frequência do Gene , Antígenos HLA/sangue , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-DQ/genética , Cadeias beta de HLA-DQ , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Humanos , Marrocos/epidemiologia , Razão de Chances , Pênfigo/sangue , Pênfigo/genética , Valores de ReferênciaRESUMO
BACKGROUND: Pyoderma gangrenosum is a form of neutrophilic dermatosis often associated with inflammatory disease or blood dyscrasias. We report a case of pyoderma gangrenosum revealing Takayasu's arteritis. OBSERVATION: A 26 year-old woman was followed since 2002 for pyoderma gangrenosum occurring during pregnancy and regressing under general corticosteroids. In January 2004, immediately after childbirth, she presented an extensive ulcerated lesion on the right forearm. Histological examination of a biopsy sample from this solution pointed towards pyoderma gangrenosum. Somatic examination showed reduced peripheral pulse on the right side, asymmetric blood pressure between the two arms and vascular murmur in the carotid, femoral and renal arteries. Based on laboratory and x-ray examinations, Takayasu's arteritis was diagnosed and chronic viral hepatitis B detected. Resumption of treatment with prednisone (1 mg/kg/d) resulted in resolution of the wounds within 1 month. DISCUSSION: Although pyoderma gangrenosum is a classic complication in Takayasu's arteritis in Japan, this combination is rare in Europe, North America and North Africa. This case was singular in terms of the occurrence of pyoderma gangrenosum with each pregnancy. However, a number of epidemiological and clinical features were consistent with those reported in the literature, namely presentation predominantly in female patients, young age and involvement of the limbs. In 60% of cases, pyoderma gangrenosum precedes Takayasu's arteritis. The recommended mode of treatment comprises oral corticosteroids as first-line therapy followed by cyclosporine as second-line treatment.
