RESUMEN
BACKGROUND: Of all anti-dsDNA antibody detection methods, the Crithidia luciliae immunofluorescence test (CLIF) is considered to have the highest specificity for systemic lupus erythematosus (SLE). OBJECTIVE: The objective of this report is to evaluate whether the presence of anti-dsDNA antibodies detected by the CLIF method is associated with a specific clinical phenotype in recently diagnosed SLE. METHODS: This retrospective cross-sectional study included all patients with newly diagnosed SLE between 1990 and 2011 and followed up in our institution. Demographic, clinical and laboratory findings were assessed. Correlations between positivity of anti-dsDNA by the CLIF method, clinical and laboratory data were analyzed. RESULTS: A total of 104 patients were included in the analysis. Patients who were positive for anti-dsDNA by the CLIF method at the time of diagnosis had (statistically) significantly higher titers of anti-dsDNA by the ELISA method, antinuclear (ANA) and anticardiolipin antibodies, lymphopenia and complement consumption compared with the other two groups. Also they presented significantly more musculoskeletal symptoms at baseline. CONCLUSION: The presence of anti-dsDNA by the CLIF method in newly diagnosed SLE was associated with certain markers of increased disease activity. Its use could be a useful biomarker for a specific clinical phenotype suggestive of a more severe involvement at the time of the diagnosis.
Asunto(s)
Anticuerpos Antinucleares/análisis , Lupus Eritematoso Sistémico/inmunología , Adulto , Anticuerpos Anticardiolipina/análisis , Quimotripsina/química , Proteínas del Sistema Complemento/inmunología , Crithidia/química , Estudios Transversales , Femenino , Técnica del Anticuerpo Fluorescente , Técnica del Anticuerpo Fluorescente Indirecta/métodos , Humanos , Proteínas de Insectos , Lupus Eritematoso Sistémico/sangre , Lupus Eritematoso Sistémico/patología , Linfopenia/inmunología , Masculino , Persona de Mediana Edad , Fenotipo , Estudios RetrospectivosRESUMEN
Noonan syndrome (NS) is a developmental disorder characterised mainly by cardiac defects and craniofacial dysmorphia. An association between NS and some autoimmune diseases, such as thyroiditis and systemic lupus erythematosus (SLE), has been suggested. We report the case of a 28-year-old man with a diagnosis of NS and autoimmune hypothyroidism who developed symptoms and immunologic features of SLE.