Childhood-onset Systemic Lupus Erythematosus: Patients features and their transition into adulthood. / Caracterización de pacientes con Lupus Eritematoso Sistémico Infantil y su transición a etapa adulta.

INTRODUCTION: Systemic Lupus Erythematosus (SLE) is an autoimmune, multisystemic, chronic disease that is diffi cult to diagnose. Few studies describe its features in the South American pediatric population. Ob jective: to describe clinical and laboratory features, course, and treatment of childhood-onset SLE patients and their transition into adulthood. PATIENTS AND METHOD: Retrospective study of patients diagnosed with SLE in a Children's Rheumatology Unit of a hospital in Santiago de Chile between 2001 and 2017. Epidemiological, clinical, laboratory, treatment received, evolution, complications and hospitalizations data were registered. It was considered severe SLE the cases with renal or cen tral nervous system involvement. RESULTS: 31 patients were studied, all with the disease longer than 6 months. The female/male ratio was 5.2/1. The median age of presentation was 12.5 years. In 94% of cases, the diagnostic delay was less than 6 months. The most frequent clinical characteristics were arthritis (87%), skin lesions (58%), and renal involvement (58%). The most frequent laboratory findings were positive antinuclear antibodies (100%), positive anti-dsDNA antibodies (74%), and hypocomplementemia (71%). Corticosteroids, hydroxychloroquine, and mycophenolate were the most commonly used drugs. There was no mortality in this group. 97% of patients had "satisfactory check-ups" during pediatric care and 59% in the adult one. The transition was scheduled in most cases. CONCLUSIONS: The results of this study were similar to other publications and is one of the few studies describing SLE in the Chilean pediatric population. In addition, it describes the transition into adulthood.

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Lysinuric protein intolerance (LPI) is an inborn error of metabolism caused by defective transport of cationic amino acids in epithelial cells of intestines, kidneys and other tissues as well as non-epithelial cells including macrophages. LPI is caused by biallelic, pathogenic variants in SLC7A7. The clinical phenotype of LPI includes failure to thrive and multi-system disease including hematologic, neurologic, pulmonary and renal manifestations. Individual presentations are extremely variable, often leading to misdiagnosis or delayed diagnosis. Here we describe a patient that clinically presented with immune dysregulation in the setting of early-onset systemic lupus erythematosus (SLE), including renal involvement, in whom an LPI diagnosis was suspected post-mortem based on exome sequencing analysis. A review of the literature was performed to provide an overview of the clinical spectrum and immune mechanisms involved in this disease. The precise mechanism by which ineffective amino acid transport triggers systemic inflammatory features is not yet understood. However, LPI should be considered in the differential diagnosis of early-onset SLE, particularly in the absence of response to immunosuppressive therapy.

Terapias biológicas en embarazo y lactancia / Biological Therapies in Pregnancy and lactation

Las terapias biológicas son una herramienta terapéutica fundamental en cierto grupo de pacientes, sin embargo, su seguridad en el embarazo y lactancia no está aún dilucidada. El objetivo de esta revisión es actualizar los conocimientos y recomendaciones respecto al uso de fármacos biológicos durante el embarazo y lactancia. En relación al embarazo, las recomendaciones actuales sugieren que los anti TNF se podrían continuar o mantener hasta el segundo trimestre del embarazo. La terapia anti CD20 (Rituximab) y otros biológicos se recomiendan suspender en el embarazo. Durante la lactancia, se puede iniciar o continuar cualquier terapia biológica. En la primera mitad del embarazo se pueden utilizar algunos biológicos con relativo buen perfil de seguridad y en la lactancia la evidencia sugiere que no producirían mayor riesgo en el niño. Sería ideal contar con estudios randomizados controlados, pero esto podría generar un dilema ético.

Biological therapies are a fundamental therapeutic tool in a certain group of patients. However, the safety of these drugs during pregnancy and lactation remains unclear. Current recommendations regarding anti TNF use during pregnancy suggest these could be maintained until the second trimester of pregnancy. Anti CD20 therapy (Rituximab) and other biologics should not be used in pregnancy. Patients can safely initiate or continue to use biological therapy during lactation. Some biologicals are relatively safe to use during pregnancy and recent studies show that they can be used during lactation without being a major threat to the child. It would be ideal to have randomized controlled studies, but this could create an ethical dilemma.

Evolución de pacientes con artritis idiopática juvenil en terapia biológica que cursan infección por virus varicela zoster: a propósito de 4 casos / Outcomes of patients with juvenile idiopathic arthritis on biological therapy and have a varicella-zoster virus infection

En niños inmunocomprometidos, la infección por virus varicela puede producir una enfermedad grave. Existen pocos casos publicados de varicela en pacientes con artritis idiopática juvenil (AIJ) y terapia biológica. OBJETIVO: Describir la evolución de pacientes con AIJ con terapia biológica que adquirieron el virus varicela. CASOS CLÍNICOS: Se describe la historia clínica de 4 pacientes con AIJ, de entre 3 y 12 años de edad, que presentaron infección por virus varicela zoster estando con distintas terapias biológicas: 2 con anti TNF, uno con anti IL-6 y uno con bloqueador de la coestimulación del linfocito T. Dos de ellos habían recibido la vacuna contra la varicela. Todos recibieron diferentes terapias y evolucionaron sin complicaciones, no encontrando diferencias importantes en relación con el tipo de terapia biológica ni con el antecedente de haber sido vacunados. En todos los pacientes se suspendió el tratamiento biológico por al menos 2 semanas y se reinició sin reactivación de la artritis. CONCLUSIONES: En esta serie de pacientes con AIJ tratados con terapia biológica que cursaron con infección por VVZ no se observaron complicaciones graves.

Varicella virus infection may develop into severe disease in immunocompromised children. There are few studies that describe the clinical presentation of varicella infection in patients with Juvenile Idiopathic Arthritis when on biological therapy. OBJECTIVE: Describe the outcomes of patients with a diagnosis of Juvenile Idiopathic Arthritis, who acquired a varicella virus infection during treatment with biological therapy. CLINICAL CASES: A description is presented on 4 cases of Juvenile Idiopathic Arthritis in children between 3 and 12 years old, who developed a varicella-zoster infection during treatment with different biological therapies. Two patients were taking anti-TNF agents, one an Anti IL-6 agent, and one patient a T cell costimulatory blockade agent. Two of them received varicella vaccination prior to the start of biological therapy. All of them received different therapies and had favourable outcome without developing complications. No significant differences were found as regards the type of biological therapy or history of previous vaccination. Biological therapy was suspended for at least 2 weeks in all patients, and was restarted without reactivation of arthritis. CONCLUSIONS: No serious complications were observed in this patient series of children with JIA treated with biological therapy associated with VZV infection.

[Outcomes of patients with juvenile idiopathic arthritis on biological therapy and have a varicella-zoster virus infection]. / Evolución de pacientes con artritis idiopática juvenil en terapia biológica que cursan infección por virus varicela zoster. A propósito de 4 casos.

Varicella virus infection may develop into severe disease in immunocompromised children. There are few studies that describe the clinical presentation of varicella infection in patients with Juvenile Idiopathic Arthritis when on biological therapy. OBJECTIVE: Describe the outcomes of patients with a diagnosis of Juvenile Idiopathic Arthritis, who acquired a varicella virus infection during treatment with biological therapy. CLINICAL CASES: A description is presented on 4 cases of Juvenile Idiopathic Arthritis in children between 3 and 12 years old, who developed a varicella-zoster infection during treatment with different biological therapies. Two patients were taking anti-TNF agents, one an Anti IL-6 agent, and one patient a T cell costimulatory blockade agent. Two of them received varicella vaccination prior to the start of biological therapy. All of them received different therapies and had favourable outcome without developing complications. No significant differences were found as regards the type of biological therapy or history of previous vaccination. Biological therapy was suspended for at least 2 weeks in all patients, and was restarted without reactivation of arthritis. CONCLUSIONS: No serious complications were observed in this patient series of children with JIA treated with biological therapy associated with VZV infection.

Guía clínica GES de artritis idiopática juvenil 2014 / 2014 GES clinical guideline of juvenile idiopathic arthritis

La artritis idiopática juvenil (AIJ) ha sido definida por la Liga Internacional de Asociaciones de Reumatología (ILAR) como artritis de etiología desconocida que se inicia antes de los 16 años y dura por al menos seis semanas, habiendo excluido otras condiciones conocidas. La AIJ es una enfermedad cubierta por el sistema de Garantías Explícitas en Salud (GES) del Ministerio de Salud de Chile desde 2010. La presente guía, desarrollada por el Grupo Pediátrico de la Sociedad Chilena de Reumatología, consiste en una actualización de la Guía Clínica de AIJ 2010, incorporando nuevos protocolos terapéuticos y medicamentos que han demostrado un claro beneficio para niños con AIJ...

Juvenile idiopathic arthritis (JIA) has been defined by the International League of Associations for Rheumatology as arthritis of unknown etiology that begins before the sixteenth birthday and persists for at least 6 weeks with other known conditions excluded. JIA is a disease that is covered by the Explicit Health Guarantees system of the Chilean Ministry of Health since 2010. The present guideline developed by the Pediatric Group of the Chilean Rheumatology Society is an update of the 2010 JIA Clinical Guideline incorporating new treatment protocols and medications that have demonstrated clear benefits in children with JIA...

Guía de tratamiento de la artritis idiopática juvenil / Treatment guide of juvenile idiopathic arthritis

Las artritis inflamatorias del niño constituyen un grupo heterogéneo de enfermedades de presentaciones clínicasdiversas y distintas bases genéticas. Esto ha hecho necesario desarrollar protocolos para el mejor manejo de estos cuadros. En este artículo el Grupo Pediátrico de la Sociedad Chilena de Reumatología ha propuesto una Guía clínica de tratamiento de la Artritis Idiopática Juvenil según los actualesCriterios de Clasificación de ILAR (International League of Associatons for Rheumatology), Edmonton 2001.

Inflammatory arthritis in children is a heterogeneous disease group with several clinical signs and different genetic background. This has brought about the need to develop clinical trials to improve disease management. In this article, the Pediatric Group of the Chilean Rheumatology Society has proposed a Clinical Guide for the medical treatment of Juvenile Idiopathic Arthritis, based on the latest Classification Criteria of the International League of Associations for Rheumatology, ILAR, Edmonton 2001.