Determinants of Discordance Between Criteria for Inactive Disease and Low Disease Activity in Juvenile Idiopathic Arthritis.

OBJECTIVE: To assess concordance among criteria for inactive disease (ID) and low disease activity (LDA) in juvenile idiopathic arthritis (JIA) and to seek factors driving discordance. METHODS: The frequency of fulfillment of existing criteria was evaluated in information on 10,186 patients extracted from 3 cross-sectional data sets. Patients were divided up according to the functional phenotypes of oligoarthritis and polyarthritis. Concordance between criteria was examined using weighted Venn diagrams. The role of each individual component in explaining discordance between criteria was assessed by calculating the absolute number and percentage of instances in which the component was responsible for discrepancy between definitions. RESULTS: Criteria for ID were met by 28.6-41.1% of patients with oligoarthritis and by 24.0-33.4% of patients with polyarthritis. Criteria for LDA were met by 44.8-62.4% of patients with oligoarthritis and by 44.6-50.4% of patients with polyarthritis. There was a 57.9-62.3% overlap between criteria for ID and a 67.9-85% overlap between criteria for LDA. Parent and physician global assessments and acute-phase reactants were responsible for the majority of instances of discordance among criteria for ID (8.7-15.5%, 10.0-12.3%, and 10.8-17.3%, respectively). CONCLUSION: We found fair concordance between criteria for ID and LDA in JIA, with the main drivers of discordance for ID being physician and parent global assessments and acute-phase reactants. This observation highlights the need for further studies aimed to evaluate the impact of subjective physician and parent perception of disease remission and of laboratory measures of inflammatory activity on the definition of ID.

Síndrome de Aicardi-Goutieres: Diagnóstico genético en una lactante

El Síndrome de Aicardi-Goutieres (SAG) se caracteriza por una encefalopatía genética, progresiva, de inicio temprano, que se asocia a un proceso inflamatorio. Además del SNC, puede afectar a la piel, con erupciones tipo sabañones, y presentar microcefalia, talla baja, disfunción hepática, disfunción tiroidea, reactantes de fase aguda elevados, anticuerpos autoinmunes positivos y asociaciones para enfermedades sistémicas autoinmunes como él LES. El SAG presenta locus heterogénicos, con mutaciones identificadas en los genes que codifican el exonucleasa TREX1 3´â†’5´ y las tres subunidades del complejo de endonucleasa RNASEH2. Se presenta el caso de una paciente de 2 años de edad, con retraso del desarrollo psicomotor, sin otras manifestaciones sistémicas, diagnosticada como SAG, con variante c.529G(A (p.Ala177Thr) con efecto patogénico en homocigosis en el gen RNASEH2B.

Aicardi-Goutieres Syndrome (AGS) is characterized by an early-onset, progressive, genetic encephalopathy associated with an inflammatory process. In addition to the CNS, it can affect the skin, with chilblain-like eruptions, and present with microcephaly, short stature, liver dysfunction, thyroid dysfunction, elevated acute phase reactants, positive autoimmune antibodies, and associations for autoimmune systemic diseases such as SLE. SAG presents heterogeneous loci, with mutations identified in the genes encoding the TREX1 3'→5' exonuclease and the three subunits of the RNASEH2 endonuclease complex. We present the case of a female 2-year-old patient, with delayed psychomotor development, without other systemic manifestations, diagnosed as SAG, with variant c.529G>A (p.Ala177Thr) with a pathogenic effect in homozygosis in the RNASEH2B gene.