Clara Malagón

Sarcoidosis en pediatría: reporte de 7 casos

Resumen La sarcoidosis es una enfermedad granulomatosa cronica de origen no infeccioso que puede comprometer diversos organos. Su prevalencia es baja, y en Colombia se han reportado casos de manera aislada. Su etiologia y fisiopatologia aun no se conocen completamente. La presentacion clinica y las diferentes manifestaciones de la enfermedad son variables. Cuando su debut se presenta en ninos menores de 5 anos se denomina sarcoidosis de inicio temprano, mientras que cuando lo hace en ninos mayores de 5 anos recibe el nombre de sarcoidosis de inicio tardio. En este reporte de caso se presentan 7 pacientes pediatricos, de los cuales 5 correspondieron a sarcoidosis de inicio temprano y 2 a sarcoidosis de inicio tardio. Todos los pacientes tuvieron un diagnostico tardio de la enfermedad, manifestaciones de varios organos y sistemas, y recibieron tratamiento inmunosupresor. Cuatro tuvieron curso cronico, 2 remisiones de la enfermedad y 1 recaidas frecuentes. Fue llamativa una asociacion poco usual de 2 pacientes con sarcoidosis de inicio temprano quienes adicionalmente presentaron la enfermedad de Ollier.

Autoantibodies and gastrointestinal symptoms in colombian children with juvenile idiopathic arthritis.

BACKGROUND Juvenile Idiopathic Arthritis (JIA) is the most common inflammatory joint disease in children. JIA and autoimmune inflammatory Gastrointestinal (GI) diseases share common etiologic mechanisms, including genetic predisposition and environmental influences. OBJECTIVE To Investigate association between gastrointestinal, rheumatologic clinical variables and the presence of autoantibodies in patients with JIA in treatment. METHODOLOGY In a cross-sectional study of patients with JIA according to diagnostic criteria and the ILAR classification. GI symptoms and autoantibody expression were evaluated with respect to their association with JIA clinical variables. Anti-Saccharomyces Cerevisiae IgG/IgA (ASCA), 6 antigen associated with anti polymorphonuclear neutrophil (ANCA), anti Transglutaminase (tTG) IgG/IgA, anti deaminated gliadin peptide (DGP) IgG/IgA autoantibodies, ANAS and IgA were measured in all patients. The association between clinical variables and auto-antibodies were evaluated using the Fisher test with significant value of p <0.05. The study was approved by the ethics committee of the all institutions. RESULTS Samples were collected from ninety-seven patients, 63% of whom were female. The average age was 14 years. The JIA subtype associated with the most common GI symptoms was enthesitis- related arthritis. Of these patients, 44.3% and 14% reported abdominal pain and diarrhea, respectively. Anti-DPG and anti-tTG antibodies were found in 9.28% and 7.22%, respectively and 11.34% were positive for p-ANCA, and 2% were positive for ASCA. CONCLUSION GI symptoms and autoantibodies associated with inflammation of the GI mucosa were detected in JIA patients but were not associated with autoantibodies or clinical variables. However, it is the monitoring of these patients diagnosis is important.

Asociación de variantes polimorfas de los genes PTPN22, TNF y VDR en niños con nefritis lúpica: un estudio de tríos en familias colombianas

INTRODUCTION Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families. MATERIALS AND METHODS We conducted a family-based study including 46 triads (case, father and mother). The variants rs2476601 of PTPN22; rs361525 and rs1800629 of TNF, and TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] and FokI [rs2228570] of VDR were genotyped by qPCR. The effects of overtransmission of the risk allele from parents to children and linkage disequilibrium at the VDR and TNF loci were estimated. RESULTS We found that allele A of rs2476601 in PTPN22 was distributed among 8.69 % (n=16) of the parents and 19.5 % (n=18) of the cases; this allele was overtransmitted from parents to children 17 times more often than the G allele (p=0.028). TNF and VDR polymorphisms did not exhibit transmission disequilibrium. VDR TaqI, ApaI and BsmI variants exhibited linkage disequilibrium. CONCLUSION These findings showed an association between the PTPN22 rs2476601 polymorphism and pediatric lupus nephritis due to its overtransmission in the group of families studied.

ANA positivity in juvenile idiopathic arthritis: make a difference in a Colombian children population?

Juvenile idiopathic arthritis is the most common cause of chronic arthritis in children. JIA is a heterogeneous disease that has been classified by the International League of Associations for Rheumatology (ILAR) on seven different subtypes according to the most relevant clinical and serological features. Previous studies have demonstrated an association between the presence of antinuclear antibodies (ANA) and features like: early-onset oligoarticular disease, female predominance, asymmetric arthritis and higher frequency of uveitis. There are limited data on the characteristics clinical and analytical into different subtypes of JIA in Colombian children and their relationship with type of onset and clinical course.

PReS-FINAL-2288: Juvenile primary and secondary antiphospolipid syndrome. Clinical and serological features on a Colombian cohort

Antiphospholipid syndrome (APS) is characterized by venous or arterial thrombosis and/or fetal losses, in the presence of one or more types of antiphospholipid antibodies (aPL) (Anitcardiolipin antibodies (ACA), lupus anticoagulant (LA) or anti beta 2-glycoprotein I (β2GPI). Information about APS in juvenile patients is limited and reports showed some differences between the clinical and serological features in adults and juvenile APS. There are limited data on the incidence and prevalence of Primary APS (PAPS) and Secondary APS (SAPS). Thrombotic events are the typical manifestation of APS but hematologic and neurologic manifestations have been described with different frequencies.