RESUMEN
Monogenic causes are increasingly being recognized in patients with lupus, especially in early-onset disease. We herein report a boy with a novel mutation in the DNase 2 (DNASE2) gene presenting with monogenic lupus. A 6-year-old boy with a global developmental delay with microcephaly presented with chronic febrile illness with anemia, rash, polyarthritis, renal involvement, and hepatosplenomegaly. Laboratory investigations revealed positive antinuclear antibody, high anti-dsDNA antibody titers, hypocomplementemia, hypergammaglobulinemia, nephrotic range proteinuria, and diffuse proliferative glomerulonephritis. Magnetic resonance imaging of brain showed altered signal intensity in subcortical white matter in bilateral fronto-parieto-temporal lobes. Targeted next-generation sequencing revealed a novel pathogenic variant in DNASE2. He was treated with oral prednisolone, mycophenolate mofetil, cyclosporine, and hydroxychloroquine and is doing well on follow up. DNASE2 deficiency has been reported as a rare genetic cause of monogenic lupus. DNASE2 deficiency should be suspected in patients with early-onset lupus with polyarthritis, erythematous rash, and neurological involvement.
Asunto(s)
Artritis , Exantema , Glomerulonefritis , Lupus Eritematoso Sistémico , Masculino , Humanos , Niño , Prednisolona , Ácido Micofenólico , Exantema/etiología , Exantema/genética , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológicoRESUMEN
Transradial access (TRA) is gradually getting attention in neurointervention radiology. Neurointerventionists now understand its advantages such as lesser complications, short hospital stay, and better patient satisfaction than transfemoral access. This review aims to provide a comprehensive approach for the interventionist to get familiar with the TRA. In this first part of the review, we will focus on patient selection, preparation, and access-related issues of a standard TRA.