[Pediatric ANCA-associated vasculitis, a case series]. / Vasculitis asociadas a ANCA en pediatría, serie de casos clínicos.

INTRODUCTION: ANCA-associated vasculitis (AAV) is an infrequent disease in childhood. International literature about pediatric vasculitis is scarce, and it mainly refers to other systemic vasculitides with a higher incidence in childhood, such as IgA vasculitis and Kawasaki disease. OBJECTIVE: To describe the clini cal and laboratory characteristics of a series of pediatric cases with AAV. PATIENTS AND METHOD: Re trospective, descriptive study of patients with diagnosis of AAV treated at a tertiary health center from Santiago, Chile, between 2000 and 2020. Electronic medical records were reviewed collecting epidemiological, laboratory, images, and biopsies data. RESULTS: There were five cases of pediatric pa tients with AAV, with varying degrees of severity, and the age range at the onset was 5.5 to 13.5 years. We observed frequent renal involvement in microscopic polyangiitis (MPA) and eye involvement due to orbital pseudotumor in patients with granulomatosis with polyangiitis (GPA), an infrequent manifestation in the international pediatric literature. Patients were treated according to recommen dations extrapolated from clinical trials in adult populations, showing excellent clinical response to induction therapy with systemic corticosteroids and cyclophosphamide or rituximab. During main tenance therapy, most of the patients were stable on rituximab, azathioprine, or methotrexate. No patient developed organ damage and all cases achieved discontinuation of the corticosteroid therapy. CONCLUSION: This report describes the clinical characteristics of AAV in a series of pediatric patients. In this series, renal involvement was common in MPA and eye involvement due to orbital pseudotu mor in GPA. The clinical response with treatment according to recommendations extrapolated from the adult population was favorable.

Caracterización clínica de pacientes chilenos con alergia alimentaria mediada por IgE / Clinical characterization of Chilean patients with IgE-mediated food allergy

INTRODUCCIÓN: La alergia alimentaria (AA) es una entidad de elevada y creciente prevalencia, pudiendo ser mediada por IgE o inmunidad celular. Puede presentar amplia sintomatología y ser gatillada por múltiples antígenos alimentarios, lo que varía en diversas zonas geográficas. OBJETIVO: Describir las características clínicas de pacientes chilenos con AA IgE-mediada. PACIENTES Y MÉTODO: Revisión retrospectiva de pacientes con AA IgE-mediada atendidos en un centro terciario de salud de Santiago, Chile entre los años 2006 y 2016. Se evaluaron características demográficas, manifestaciones clínicas y alimentos gatillantes. RESULTADOS: Se incluyeron 282 pacientes con diagnóstico de AA IgE-mediada. El 89% debutó con AA antes de los 18 años de edad y de estos, la mayoría antes del año (mediana: 1 año; rango: 1 mes - 55 años). Las manifestaciones clínicas más frecuentes fueron urticaria, angioedema, disnea y vómitos. Un 40% tenía historia compatible con anafilaxia. Los alimentos más frecuentes fueron huevo, leche de vaca, maní, mariscos, nuez, tomate, trigo, palta, pescados y legumbres. Alergia a huevo, leche de vaca y maní fueron más frecuentes en edad pediátrica, mientras que en adultos fueron los mariscos. CONCLUSIONES: Los alimentos causantes de AA IgE-mediada en Chile fueron similares a los descritos en otros países, aunque destaca la elevada frecuencia de alergia a tomate y palta, poco habituales en series internacionales. La incidencia de anafilaxia fue alta, lo que instala la necesidad de contar con autoinyectores de adrenalina a nivel nacional.

BACKGROUND: Food allergy (FA) is an entity of high and growing prevalence, which can be mediated by IgE or cellular immunity. It can have a wide range of symptoms and be triggered by multiple food antigens, which vary in different geographical areas. OBJECTIVES: To describe clinical characteristics of Chilean patients with IgE-mediated FA. Patients and Method: Retrospective review of patients with IgE-mediated FA treated at a tertiary healthcare center in Santiago, Chile, between 2006 and 2016. Demographic characteristics, clinical manifestations, and trigger foods were evaluated. RESULTS: A to tal of 282 patients diagnosed with IgE-mediated FA were included. 89% had FA onset before 18 years of age and most of these before one year of age (median of age: one year; range: one month-55 years). The most common clinical manifestations were hives, angioedema, dyspnea, and vomiting. 40% had symptoms compatible with anaphylaxis. The foods most frequently involved were egg, cow's milk, peanut, shellfish, walnut, tomato, wheat, avocado, fish, and legumes. Egg, cow's milk, and peanut allergies were the most frequent at pediatric age, while seafood allergy was the most frequent among adults. CONCLUSION: Foods causing IgE-mediated FA in Chile were similar to those described in other countries, although the frequency of tomato and avocado allergy, which are unusual in international series, stands out. Anaphylaxis incidence was high, emphasizing the need for epinephrine autoinjec tors in Chile.

Distribución geográfica de la enfermedad de Kawasaki en Chile / Geographic distribution of Kawasaki disease throughout Chile

Background: Incidence of Kawasaki disease (KD) in Chile is rising, however the distribution of cases throughout Chile is unknown. Objective: To describe the epidemiology of KD in Chile between years 2001 and 2011, and study the geographic distribution of KD cases throughout the country. Methods: We reviewed national hospital discharge databases for KD cases (ICD10 code M30.3) in children < 18 years. KD admission rates per 100,000 children < 5 years were calculated for every commune, health district and region, as a proxy of KD incidence. Results: 1,404 KD cases were registered with a national KD incidence rate of 8.7. KD incidence rate increased significantly from 5.9 in 2001-2003 to 10.4 in 2009-2011 (p < 0.001). Regions IX (Araucanía), Metropolitan and VI (O'Higgins) had the highest KD incidence (12.4, 11.1 and 10.5 respectively), and regions III (Atacama), II (Antofagasta) and XII (Magallanes), had the lowest incidence (0.8, 3.9 and 4, respectively). The Eastern Metropolitan Health District, the population with the highest socioeconomic status in Chile, had the highest KD incidence rate (19.8) and concentrated 23.9% of the country's hospital discharges for KD. Conclusion: KD incidence in Chile is heterogeneous, with concentration of caseloads in the central regions and especially in the Eastern Metropolitan Health District. Geographic variations of KD in Chile could be associated with real differences in incidence or with disparities in diagnostic opportunity, and access to specialists and tertiary healthcare centers.

Introducción: La incidencia de enfermedad de Kawasaki (EK) en Chile ha aumentado; sin embargo, la distribución detallada de los casos en el país es desconocida. Objetivo: Describir la epidemiología de la EK en Chile entre 2001 y 2011 y estudiar la distribución geográfica de los casos de EK a lo largo del país. Métodos: Se obtuvieron los egresos hospitalarios por EK (ICD10 M30.3) en < 18 años de bases de datos nacionales. Se calcularon las tasas de egreso hospitalario por EK en < 5 años por 100.000 habs. para cada comuna, servicio de salud (SS) y región como estimación de incidencia de EK. Resultados: Se registraron 1.404 egresos por EK. La tasa de incidencia de EK fue de 8,7 con un aumento significativo desde el trienio 2001-2003 al trienio 20092011 desde 5,9 a 10,4 (p < 0,001). Las regiones con mayores egresos por EK fueron: IX (Araucanía), Región Metropolitana y VI (O'Higgins) con tasas de 12,4; 11,1 y 10,5, respectivamente. Las regiones con menores egresos por EK fueron: III (Atacama), II (Antofagasta) y XII (Magallanes) con tasas de 0,8; 3,9 y 4, respectivamente. El SS Metropolitano Oriente registró la tasa más alta de EK del país (19,8) y concentró 23,9% de los egresos por EK del país. Conclusión: La EK en Chile se distribuye heterogéneamente concentrándose principalmente en la zona central y en el SS Metropolitano Oriente. Las variaciones geográficas de EK en Chile podrían estar asociadas a diferencias reales de incidencia o diferencias en oportunidad diagnóstica, acceso a especialistas y a centros terciarios de atención de salud.

Características clínicas asociadas a colitis eosinofílica en lactantes con rectorragia persistente / Clinical features of Eosinophilic Colitis in infants with persistent rectal bleeding

The most common presentation of cow's milk protein allergy (CMP) in infants is known as eosinophilic colitis (EC). The aim of this study is to evaluate EC characteristics in infants evaluated with colonoscopy due to the presence of rectorrhagia. Patients and Methods: A retrospective case-control study. Left-sided colonoscopy records of infants with persistent rectal bleeding, conducted between January 2006 and March 2011, were reviewed. The cases corresponded to infants with rectal biopsy compatible with EC and controls with negative biopsy. Telephone questionnaires to parents were conducted, evaluating personal and family history. Results: Complete records were obtained in 61 (79%) of the 77 procedures. 33 (54%) of them were males. Examination average age was 6.3 ± 5.9 months. 25 (41%) patients had EC on their histology. Between cases and controls, no significant difference in gestational age, birth weight and gender, only regarding age at the time of rectal bleeding, were observed. There was also no difference in personal history regarding obstructive bronchitis, allergic rhinitis, family history of asthma, allergic rhinitis or other food allergies. Those who received artificial feeding did not presented greater risk of EC. The most common symptoms in the cases did not differ significantly from the controls. Conclusions: The prevalence of EC in the children studied was 40.9%. Our results show that there are groups of patients with persistent rectal bleeding in which there is no personal or family history that helps diagnosing EC. An endoscopic study could be considered in these patients to establish a correct diagnosis of this condition, avoid unnecessary diets and not to delay the detection of other diseases.

En lactantes, la forma de presentación más común de la alergia a la proteína de la leche de vaca (PLV) es la colitis eosinofílica (CE). El objetivo de este trabajo es evaluar características clínicas asociadas a CE en lactantes evaluados con colonoscopía por la presencia de rectorragia. Pacientes y Método: Estudio caso-control, retrospectivo. Se revisaron registros de colonoscopía izquierda de lactantes con rectorragia persistente, realizadas entre Enero 2006 y Marzo 2011. Casos fueron lactantes con rectorragia y biopsia compatible con CE y controles aquellos con biopsia negativa. Se realizó un cuestionario vía telefónica a los padres, evaluándose antecedentes personales y familiares. Resultados: En 61 (79%) de 77 procedimientos se obtuvo registros completos. 33 (54%) eran hombres. Edad promedio del examen fue 6,3 ± 5,9 meses. 25 (41%) pacientes presentaron CE en la histología. Sin diferencia significativa en edad gestacional, peso de nacimiento ni sexo, pero si en edad de presentación de la rectorragia, entre casos y controles. Tampoco hubo diferencia en antecedentes personales de bronquitis obstructivas, rinitis alérgica, ni antecedentes familiares de asma, rinitis alérgica u otras alergias alimentarias. Quienes recibieron lactancia artificial no tuvieron mayor riesgo de CE. Los síntomas más frecuentes en los casos no se diferenciaron significativamente de los controles. Conclusión: La prevalencia de CE en los niños estudiados fue de 40,9%. Nuestros resultados muestran que hay grupos de pacientes con rectorragia persistente en los cuales no existen antecedentes de la historia familiar ni personal que permitan establecer el diagnóstico de CE. Es en estos pacientes en los cuales podría considerarse el estudio endoscópico para establecer un correcto diagnóstico de esta patología, evitar dietas innecesarias y no retrasar la detección de otras enfermedades.

Higher latitude and lower solar radiation influence on anaphylaxis in Chilean children.

BACKGROUND: Recent studies suggest an association between higher latitude, a proxy of vitamin D (VD) status, and allergic diseases. Chile provides an ideal setting to study this association due to its latitude span and high rates of VD deficiency in southern regions. The aim of this study is to explore the associations of latitude and solar radiation with anaphylaxis admission rates. METHODS: We reviewed anaphylaxis admissions in Chile's hospital discharge database between 2001 and 2010 and investigated associations with latitude and solar radiation. RESULTS: 2316 anaphylaxis admissions were registered. Median age of patients was 41 yr; 53% were female. National anaphylaxis admission rate was 1.41 per 100,000 persons per year. We observed a strong north-south increasing gradient of anaphylaxis admissions (ß 0.04, p = 0.01), with increasing rates south of latitude 34°S. A significant association was also observed between solar radiation and anaphylaxis admissions (ß -0.11, p = 0.009). Latitude was associated with food-induced (ß 0.05, p = 0.02), but not drug-induced (ß -0.002, p = 0.27), anaphylaxis. The association between latitude and food-induced anaphylaxis was significant in children (ß 0.01, p = 0.006), but not adults (ß 0.003, p = 0.16). Anaphylaxis admissions were not associated with regional sociodemographic factors like poverty, rurality, educational level, ethnicity, or physician density. CONCLUSIONS: Anaphylaxis admission rates in Chile are highest at higher latitudes and lower solar radiation, used as proxies of VD status. The associations appear driven by food-induced anaphylaxis. Our data support a possible role of VD deficiency as an etiological factor in the high anaphylaxis admission rates found in southern Chile.

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.

[Clinical features of Eosinophilic Colitis in infants with persistent rectal bleeding]. / Características clínicas asociadas a colitis eosinofílica en lactantes con rectorragia persistente.

UNLABELLED: The most common presentation of cow's milk protein allergy (CMP) in infants is known as eosinophilic colitis (EC). The aim of this study is to evaluate EC characteristics in infants evaluated with colonoscopy due to the presence of rectorrhagia. PATIENTS AND METHODS: A retrospective case-control study. Left-sided colonoscopy records of infants with persistent rectal bleeding, conducted between January 2006 and March 2011, were reviewed. The cases corresponded to infants with rectal biopsy compatible with EC and controls with negative biopsy. Telephone questionnaires to parents were conducted, evaluating personal and family history. RESULTS: Complete records were obtained in 61 (79%) of the 77 procedures. 33 (54%) of them were males. Examination average age was 6.3 ± 5.9 months. 25 (41%) patients had EC on their histology. Between cases and controls, no significant difference in gestational age, birth weight and gender, only regarding age at the time of rectal bleeding, were observed. There was also no difference in personal history regarding obstructive bronchitis, allergic rhinitis, family history of asthma, allergic rhinitis or other food allergies. Those who received artificial feeding did not presented greater risk of EC. The most common symptoms in the cases did not differ significantly from the controls. CONCLUSIONS: The prevalence of EC in the children studied was 40.9%. Our results show that there are groups of patients with persistent rectal bleeding in which there is no personal or family history that helps diagnosing EC. An endoscopic study could be considered in these patients to establish a correct diagnosis of this condition, avoid unnecessary diets and not to delay the detection of other diseases.

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...

Clinical and genetic features of hereditary periodic fever syndromes in Hispanic patients: the Chilean experience.

Hereditary periodic fever syndromes (HPFS) are rare genetic diseases characterized by recurrent episodes of inflammation. Little information is available concerning HPFS in Latin American Hispanic population. The purpose of this study was to determine the clinical and genetic features of HPFS in Chilean population. A multicenter retrospective study of Hispanic Chilean patients with genetically confirmed HPFS was performed. We included 13 patients, 8 with familial Mediterranean fever (FMF) and 5 with TNF receptor-associated periodic syndrome (TRAPS), evaluated at rheumatology or pediatric rheumatology clinics between January 2007 and December 2010. Median age of symptoms onset was 8 years (range 1-35) and 8 years (range 0.3-21) for FMF and TRAPS, respectively. Median duration of fever was 3 days (range 2.5-15) for FMF and 21 days (range 9.5-30) for TRAPS. Genotyping of the MEFV gene in FMF patients revealed a homozygous M694V missense mutation in one patient, and heterozygous missense mutations in seven patients: M694V (n = 3), E148Q, R717H, A744S, and A511V. Sequencing of the TNFRSF1A gene in TRAPS patients revealed heterozygous missense mutations in four patients: T50M, C30R, R92Q, and IVS3+30:G→A, and a two-base pair deletion (IVS2-17_18del2bpCT) in one patient. Mutation in MEFV R717H and mutations in TNFRSF1A IVS2-17_18del2bpCT and IVS3+30:G→A are novel and have not been described previously. This study reports the largest series of genetically confirmed HPFS in Latin America, and adds evidence regarding the clinical and genetic characteristics of patients with FMF and TRAPS in Hispanic population. Mutations identified in MEFV and TNFRSF1A genes include defects reported in other ethnicities and novel mutations.

Inverse correlation between allergy markers and Helicobacter pylori infection in children is associated with elevated levels of TGF-ß.

OBJECTIVES: We evaluated allergy/hypersensitivity clinical markers and their correlation with Helicobactor pylori infection in children and adults to analyze how early acquisition of H. pylori could modulate allergic disorder expression. PATIENTS AND METHODS: H. pylori presence was assessed by the rapid urease test and histology of antrum biopsies in 165 patients. Skin tests, serum IgE, and two clinical allergy questionnaires were performed. Allergy severity was operationally defined using a combined score. Findings were correlated with H. pylori status and cytotoxin-associated gene A presence in pediatric and adult patients. Transforming growth factor ß (TGF-ß) levels were measured by an enzyme-linked immunosorbent assay in serum and gastric biopsies of H. pylori (+) patients. RESULTS: H. pylori (-) children had more positive skin tests to a higher number of antigens than H. pylori (+) children (P<0.05). Operationally defined allergy inversely correlates with H. pylori infection in children, but not in adults. The percentage of H. pylori infection was lower in children with severe allergy (32.3%) compared with children with mild allergy (43.4%) or no allergy (64.3%) (P<0.05). Colonization with virulent strains (cytotoxin-associated gene A+) showed a nonsignificant inverse correlation with severity of allergies in pediatric patients. H. pylori-infected children, but not adults, without allergy markers showed increased levels of TGF-ß compared with allergic children both in serum and gastric mucosa (P<0.05). CONCLUSION: There was a strong inverse correlation between allergy markers and H. pylori infection in pediatric patients associated with elevated levels of TGF-ß locally and systemically. H. pylori-associated chronic gastritis might downregulate clinical allergy expression.

IRF8 mutations and human dendritic-cell immunodeficiency.

BACKGROUND: The genetic analysis of human primary immunodeficiencies has defined the contribution of specific cell populations and molecular pathways in the host defense against infection. Disseminated infection caused by bacille Calmette-Guérin (BCG) vaccines is an early manifestation of primary immunodeficiencies, such as severe combined immunodeficiency. In many affected persons, the cause of disseminated BCG disease is unexplained. METHODS: We evaluated an infant presenting with features of severe immunodeficiency, including early-onset disseminated BCG disease, who required hematopoietic stem-cell transplantation. We also studied two otherwise healthy subjects with a history of disseminated but curable BCG disease in childhood. We characterized the monocyte and dendritic-cell compartments in these three subjects and sequenced candidate genes in which mutations could plausibly confer susceptibility to BCG disease. RESULTS: We detected two distinct disease-causing mutations affecting interferon regulatory factor 8 (IRF8). Both K108E and T80A mutations impair IRF8 transcriptional activity by disrupting the interaction between IRF8 and DNA. The K108E variant was associated with an autosomal recessive severe immunodeficiency with a complete lack of circulating monocytes and dendritic cells. The T80A variant was associated with an autosomal dominant, milder immunodeficiency and a selective depletion of CD11c+CD1c+ circulating dendritic cells. CONCLUSIONS: These findings define a class of human primary immunodeficiencies that affect the differentiation of mononuclear phagocytes. They also show that human IRF8 is critical for the development of monocytes and dendritic cells and for antimycobacterial immunity. (Funded by the Medical Research Council and others.).

Púrpura de Schõnlein-Henoch: manifestaciones clínicas más frecuentes y actualización del tratamiento esteroidal / Schõnlein-Henoch purpura: clinical manifestations and updates in steroidal treatment

El púrpura de Schõnlein-Enoch corresponde a la vasculitis más frecuente en pediatría, afecta principalmente vasos pequeños de la piel, articulaciones, tracto gastrointestinal y riñones. este artículo revisa la actualización del tratamiento esteroidal.

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.

TRAPS, un síndrome autoinflamatorio: Casos cínicos / Tumor necrosis factor receptor associated periodic syndrome (TRAPS): Report of two cases

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.

[Tumor necrosis factor receptor associated periodic syndrome (TRAPS). Report of two cases]. / TRAPS, un síndrome autoinflamatorio. Casos cínicos.

Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is an autoinflammatory disorder associated to a mutation of the Tumor Necrosis Factor Receptor 1 (TNFR1) whose clinical presentation consists on recurrent episodes of prolonged fever, abdominal pain, myalgias, migratory cutaneous erythema, conjunctivitis or periorbitary edema. The diagnosis is confirmed by genetic analysis of the TNFR1 gene. Its main complication is amyloidosis and the treatment is based on the use of corticosteroids or anti-TNF antibodies. We report a 17 year-old male and 23 year-old female with the syndrome. Both cases had heterozygous mutations of the TNFR1 gene, C30R in the first case and T50M in the second case.

Alergia en la infancia: ¿existen realmente? / Allergy in childhood: exist?

Las enfermedades alérgicas constituyen un grupo heterogéneo de enfermedades asociadas clásicamente a una reacción de hipersensibilidad tipo I, en cuya respuesta inmune, mediada principalmente por IgE, participan diversas clases de celulas como linfocitos, especialmente los CD4 polarizados a Th2, linfocitos B antígeno específicos, mastocitos, basófilos y finalmente citoquinas. Durante la última década se ha observado un incremento de la incidencia de las enfermedades alérgicas en los países occidentales, especialmente en niños. Este artículo resume y expone aspectos básicos para comprender la existencia de la alergia en la infancia. Así mismo, se expone la opinión de Comités de expertos internacionales en el área de alergia, quienes han propuesto una nueva nomenclatura para estas enfermedades, según la reacción de hipersensibilidad involucre o no un mecanismo inmune, y esté o no mediada por IgE.

Alteraciones de los niveles de inmunoglobulinas séricas inducidas por fenitoína en niños epilépticos / Changes in the serum immunoglobulins levels induced by phenytoin in epileptic children

Se estudiaron los niveles séricos de inmunoglobulinas de 33 niños, y adolescentes epilépticos tratados con fenitoína como único anticonvulsivante. Comparados con los controles normales, pareados, los pacientes presentaron menores niveles de IgA e IgM. (IgA pacientes: 153 +/- 89 vs controles: 236 +/- 128 mg/dl, p < 0,01) (Igm 155 +/- 58 vs 217 +/- 105 mg/dl, p < 0,01). De acuerdo con la edad, ochniños tratados con fenitoína, presentaron niveles muy bajos de IgA; mientras quelos 25 restantes, tuvieron valores dentro del rango normal. Estos niveles bajos de IgA estuvieron correlacionados con una duración del tratamiento mayor de 1 año, pero no con las concentraciones sanguíneas de fenotoína. Diferente fue lo observado para IgM, ya que la mayoría de los pacientes tuvo niveles algo disminuídos, pero ninguno francamente bajo. Esta menor concentración de IgM no tuvo relación ni con los niveles séricos de fenitoína ni con la duración del tratamiento. Los valores de IgG fueron similares en pacientes y controles. El tratamiento confenitoína en niños epilépticos, puede inducir cambios en los niveles de IgM y A,probablemente a través de mecanismos patogénicos diferentes, que podrían tener importancia clínica