¿Es útil el cribado familiar en el déficit selectivo de inmunoglobulina A? / Is familial screening useful in selective immunoglobulin A deficiency?

INTRODUCCIÓN: El déficit selectivo de IgA (DSIgA) es la inmunodeficiencia primaria más frecuente, siendo a menudo asintomática. Se ha descrito una elevada agregación familiar, sin conocerse el defecto genético causante ni su mecanismo hereditario. OBJETIVOS: Definir la utilidad del cribado de los familiares de primer grado de los pacientes con DSIgA valorando si los casos familiares presentan unas características clínicas e inmunológicas más graves que los casos esporádicos (CE) y si los familiares diagnosticados de DSIgA presentan sintomatología clínica significativa para justificar su cribado. PACIENTES Y MÉTODOS: Estudio transversal descriptivo (octubre del 2010-septiembre del 2011) de todos los pacientes con DSIgA controlados en nuestro centro, con revisión de datos demográficos, clínicos y analíticos. Se consideró como caso familiar (CF) todo aquel con al menos un familiar de primer grado (FPG) con DSIgA. RESULTADOS: De los 130 participantes, 42 eran pacientes con DSIgA y 88 FPG. Se diagnosticaron 13 CF (31%), 29 CE (69%) y 14 (16%) FPG enfermos (FPG-E). El número necesario a analizar para encontrar un FPG-E fue de 6 familiares. No hubo diferencias clínicas entre los pacientes. Hubo una proporción mayor de patología intestinal (p = 0,001, OR=9,57, IC del 95%, 2,59-35,3), ingresos (p = 0,045, OR=4,01; IC del 95%, 1,10-14,67) y necesidad de tratamiento crónico (p = 0,006, OR=5,5; IC del 95%, 1,57-19,54) en los FPG-E con respecto a los FPG sanos. CONCLUSIONES: A pesar de no encontrar más complicaciones clínicas en los CF de DSIgA, la elevada prevalencia de familiares afectados con afectación clínica significativa podría justificar la realización sistemática de estos programas de cribado

INTRODUCTION: Selective immunoglobulin A deficiency (SIgAD), the most common primary immunodeficiency, is often asymptomatic. High rates of familial clustering have been described in SIgAD, but the causative genetic defect and mechanism of inheritance are unknown. OBJECTIVES: To determine whether familial SIgAD cases show more severe clinical and immunological characteristics than sporadic ones; to investigate the utility of screening first-degree relatives (FDRs) of these patients, and to determine whether symptoms in affected family members are important enough to justify screening. PATIENTS AND METHODS: Descriptive, cross-sectional study (October 2010-September 2011) of all patients with SIgAD and followed up in our center. Demographic, clinical, and analytical data were reviewed. A familial case was defined as an SIgAD patient with at least one affected FDR. RESULTS: Of the 130 participants, 42 were SIgAD patients and 88 FDR. There were 13 (31%) familial cases and and 14 (16%) affected FDRs. Six family members had to be analyzed in order to detect one affected one. There were no clinical differences between familial and sporadic SIgAD cases. The percentages of intestinal disease (p=001, OR=9.57, 95%CI 2.59-35.3), hospitalizations (p=045, OR=4.01; 95%CI 1.10-14.67], and need for chronic treatment (p=006, OR=5.5; 95%CI 1.57-19.54) were higher in affected FDRs than in unaffected ones. CONCLUSIONS: The symptoms were not more severe in familial than sporadic SIgAD cases. Nonetheless, the elevated prevalence of affected FDRs with significant morbidity may justify routine screening of close family members of these patients

[Is familial screening useful in selective immunoglobulin A deficiency?]. / ¿Es útil el cribado familiar en el déficit selectivo de inmunoglobulina A?

INTRODUCTION: Selective immunoglobulin A deficiency (SIgAD), the most common primary immunodeficiency, is often asymptomatic. High rates of familial clustering have been described in SIgAD, but the causative genetic defect and mechanism of inheritance are unknown. OBJECTIVES: To determine whether familial SIgAD cases show more severe clinical and immunological characteristics than sporadic ones; to investigate the utility of screening first-degree relatives (FDRs) of these patients, and to determine whether symptoms in affected family members are important enough to justify screening. PATIENTS AND METHODS: Descriptive, cross-sectional study (October 2010-September 2011) of all patients with SIgAD and followed up in our center. Demographic, clinical, and analytical data were reviewed. A familial case was defined as an SIgAD patient with at least one affected FDR. RESULTS: Of the 130 participants, 42 were SIgAD patients and 88 FDR. There were 13 (31%) familial cases and and 14 (16%) affected FDRs. Six family members had to be analyzed in order to detect one affected one. There were no clinical differences between familial and sporadic SIgAD cases. The percentages of intestinal disease (p=001, OR=9.57, 95%CI 2.59-35.3), hospitalizations (p=045, OR=4.01; 95%CI 1.10-14.67], and need for chronic treatment (p=006, OR=5.5; 95%CI 1.57-19.54) were higher in affected FDRs than in unaffected ones. CONCLUSIONS: The symptoms were not more severe in familial than sporadic SIgAD cases. Nonetheless, the elevated prevalence of affected FDRs with significant morbidity may justify routine screening of close family members of these patients.

Patología infecciosa importada en hospitales terciarios / Imported infectious diseases in tertiary hospital

INTRODUCCIÓN: En el ańo 2009 se crea en nuestro centro una Consulta de Patología Importada. El objetivo de este trabajo es conocer su aportación en cuanto a capacidad, calidad asistencial y docencia ofrecida. PACIENTES Y MÉTODOS: Estudio retrospectivo entre 2009 y 2011 donde se analizan: a) desarrollo del conocimiento mediante la valoración de protocolos y publicaciones realizadas, así como la docencia impartida; y b) capacidad y calidad asistencial ofrecida mediante el análisis de los pacientes atendidos, la adecuación a los protocolos y la accesibilidad a la consulta. Se clasifican los pacientes atendidos en 3 grupos: grupo 1 cribado del paciente inmigrante; grupo 2 consulta tras viaje a zona tropical o subtropical; grupo 3 cribado de enfermedad importada de transmisión vertical. RESULTADOS: Se han desarrollado y difundido en la web de la unidad 6 protocolos y 5 publicaciones científicas. Se han atendido 316 pacientes: 191 incluidos en el grupo 1 (29 adoptados y 162 inmigrantes); 57 en el grupo 2 (94,7% Visiting Friends and Relatives y 81,5% sin consulta previaje), que acudieron principalmente por clínica gastrointestinal (52,6%) y fiebre (43,8%); y 68 en el grupo 3 con riesgo de infección importada de transmisión vertical (62 Trypanosoma cruzi, 1 virus linfotrópico T humano y 5 Plasmodium spp.). La adecuación global a los protocolos disponibles fue del 77,1%. DISCUSIÓN: Las unidades de patología infecciosa deben adaptarse a la realidad de la población que atienden, siendo flexibles en su estructura. Es imprescindible la valoración periódica de la calidad asistencial ofrecida, así como la valoración en la rentabilidad de los estudios complementarios a realizar (AU) - es INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility.The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studies

INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility.The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studieS

Fiebre y lesiones cutáneas en un paciente con enfermedad granulomatosa crónica / Fever and skin lesions in a patient with chronic granulomatous disease

No disponible

[Imported infectious diseases in tertiary hospital]. / Patología infecciosa importada en hospitales terciarios.

INTRODUCTION: An Imported Diseases Clinic was created in the hospital in 2009. The aim of this study was to asses its contribution in terms of capacity, quality of care and teaching offered. PATIENTS AND METHODS: A retrospective study was conducted from 2009 to 2011, analyzing: A) development of knowledge by means of protocols and publications created, and subject taught; B) capacity and quality of care offered by the analysis of patients seen, the adequacy of the protocols and accessibility. The patients were classified into 3 groups. Group 1: immigrant patient screening, group 2: patient consultation after tropical or sub-tropical travel, group 3: screening of vertical transmission of imported disease. RESULTS: Six protocols have been developed and disseminated on the unit website, as well as 5 scientific publications. A total of 316 patients were evaluated: 191 included in group 1 (29 Adopted and 162 Immigrants), 57 in group 2 (94.7% Visiting Friends and Relatives and 81.5% without a pre-travel consultation). They consulted due to, gastrointestinal symptoms (52.6%) and fever (43.8%), with 68 included in group 3 at risk of imported disease by vertical transmission (62 Trypanosoma cruzi, 1 Human T Lymphotropic Virus and 5 Plasmodium spp.). The overall adherence to the protocols was about 77.1%. DISCUSSION: Infectious Diseases Units must adapt to the reality of the population and be flexible in its structure. Periodic assessment of the quality of care offered is essential, as well as an evaluation on the need for additional studies.

Evaluación de un programa de valoración de adherencia al tratamiento antirretroviral / Evaluation of a program for assessing adherence to antiretroviral treatment

Introducción: Una baja adherencia al tratamiento antirretroviral (TARV) es la causa más frecuente de fracaso terapéutico tanto en niños como en adultos que viven con el VIH, siendo especialmente importante durante la adolescencia. En consecuencia, cualquier análisis de la efectividad del TARV deberá considerarse incompleto si no incluye una evaluación de la adherencia. El objetivo de este estudio es evaluar la utilidad de un programa de valoración de la adherencia al TARV en una población de pacientes pediátricos infectados por el VIH. Pacientes y métodos: Se trata de un estudio observacional y transversal, dentro del «Programa de educación sanitaria para la optimización de la adherencia en pacientes pediátricos con VIH», que forma parte del proyecto «No estoy solo». La adherencia se estudió simultáneamente mediante una combinación de diferentes métodos: entrevista personal, evolución de la carga viral y del recuento de linfocitos TCD4+, determinación de concentraciones plasmáticas de fármacos y registros de dispensación de farmacia. Resultados: Se incluyó un total de 20 pacientes (50% mujeres, edad mediana: 14,5 años). Se obtuvo un porcentaje de adherencia completa informada por el propio paciente o cuidador del 90% (IC 95%: 70-97,2%); sin embargo, el porcentaje medio de adherencia según los registros de dispensación fue significativamente inferior (83,3%; DE=32,88). La media de principios activos/día y de medicamentos/día fue de 3,5 (DE=0,83) y 5,5 (DE=2,72), respectivamente. Hubo una relación inversa entre el n.° de medicamentos/día y las puntuaciones de adherencia (F=13,8; p=0,002). Ninguno de los métodos de evaluación se relacionó de manera estadísticamente significativa con la adherencia, presentando la determinación de concentraciones plasmáticas una tendencia a la significación. Conclusiones: La adherencia global al TARV fue elevada y se vio favorecida por el uso de pautas posológicas sencillas. La adherencia informada por el paciente y/o el cuidador sobreestimó la verdadera adherencia al TARV. Recomendamos la utilización simultánea de diversos métodos de valoración de la adherencia en los niños y adolescentes que viven con el VIH (AU)

Introduction: Poor adherence to antiretroviral treatment (ART) is the commonest cause of treatment failure in children and adults living with HIV, and this is especially important during adolescence. Therefore, any analysis of ART effectiveness in children should include an evaluation of adherence to ART. The aim of this study is to assess the usefulness of an ART adherence monitoring program in an HIV-infected paediatric population. Patients and methods: An observational and cross-sectional study was performed, within the framework of the “Health Education Program for Optimising Adherence in Paediatric Patients with HIV”, which is part of the “I am not alone” project. Adherence was assessed simultaneously by different methods: personal interview, therapeutic drug monitoring, pharmacy dispensing records and evolution of viral load and T CD4+ lymphocyte count. Results: Twenty patients were included (50% female, median age 14.5 years). Percentage of self-reported full adherence was 90% (95% CI: 70-97.2%); however, the median adherence percentage according to pharmacy dispensing records was significantly lower (83.3%, SD=32.88). The average of drugs and dosage forms per day were 3.5 (SD=0.83) and 5.5 (SD=2.72), respectively. There was an inverse relationship between the number of dosage forms per day and adherence scores (F=13.8; P=0.002). No single method was statistically related to adherence, although therapeutic drug monitoring showed a trend towards significance. Conclusions: Global adherence to ART was high and was easier with simpler regimens. Self-reported adherence overestimated real adherence to ART in our cohort. The simultaneous use of different methods to assess adherence is recommended in HIV-infected children (AU)

[Evaluation of a program for assessing adherence to antiretroviral treatment]. / Evaluación de un programa de valoración de adherencia al tratamiento antirretroviral.

INTRODUCTION: Poor adherence to antiretroviral treatment (ART) is the commonest cause of treatment failure in children and adults living with HIV, and this is especially important during adolescence. Therefore, any analysis of ART effectiveness in children should include an evaluation of adherence to ART. The aim of this study is to assess the usefulness of an ART adherence monitoring program in an HIV-infected paediatric population. PATIENTS AND METHODS: An observational and cross-sectional study was performed, within the framework of the "Health Education Program for Optimising Adherence in Paediatric Patients with HIV", which is part of the "I am not alone" project. Adherence was assessed simultaneously by different methods: personal interview, therapeutic drug monitoring, pharmacy dispensing records and evolution of viral load and T CD4+ lymphocyte count. RESULTS: Twenty patients were included (50% female, median age 14.5 years). Percentage of self-reported full adherence was 90% (95% CI: 70-97.2%); however, the median adherence percentage according to pharmacy dispensing records was significantly lower (83.3%, SD=32.88). The average of drugs and dosage forms per day were 3.5 (SD=0.83) and 5.5 (SD=2.72), respectively. There was an inverse relationship between the number of dosage forms per day and adherence scores (F=13.8; P=.002). No single method was statistically related to adherence, although therapeutic drug monitoring showed a trend towards significance. CONCLUSIONS: Global adherence to ART was high and was easier with simpler regimens. Self-reported adherence overestimated real adherence to ART in our cohort. The simultaneous use of different methods to assess adherence is recommended in HIV-infected children.

Espectro de las inmunodeficiencias primarias en un hospital de tercer nivel en un periodo de 10 años / Spectrum of primary immunodeficiencies in a tertiary hospital over a period of 10 years

Introducción: Hasta el momento se han descrito más de 200 inmunodeficiencias primarias (IDP) diagnosticándose un 60% en la edad pediátrica. Un diagnóstico y tratamiento precoces mejoran significativamente el pronóstico de estos pacientes. Objetivo: Análisis de los pacientes afectos de IDP diagnosticados en un centro de referencia durante 10 años. Pacientes y métodos: Revisión retrospectiva y análisis de las características clínicas, epidemiológicas, resultados de laboratorio, tratamiento administrado y curso evolutivo de las mismas. Resultados: Ciento ochenta y nueve pacientes fueron diagnosticados-controlados en este periodo de tiempo, siendo el déficit predominante de anticuerpos el diagnóstico más frecuente. En nuestra serie, la clínica de presentación al diagnóstico fue: infecciones respiratorias de repetición en pacientes con déficit selectivo de IgA e inmunodeficiencia común variable (IDCV),retraso ponderoestatural e infecciones oportunistas (principalmente virus) en pacientes con inmunodeficiencia combinada grave (IDCG), abscesos cutáneos (Staphylococcus aureus, Serratiaspp.) y neumonía (Aspergillus spp., Rhodococcus equi) en la enfermedad granulomatosa crónica, cardiopatía y fenotipo compatible en el síndrome de deleción 22q11, abscesos cutáneos y ectima gangrenoso en la neutropenia congénita grave e infecciones oportunistas y sepsis (Pseudomonas aeruginosa) en niños con agammaglobulinemia ligada al cromosoma X (ALX). Se describen manifestaciones linfoproliferativas con mayor frecuencia en pacientes con IDCV y ninguna manifestación compatible con un proceso maligno. Uno de los pacientes con ALX desarrolló una encefalitis crónica. Todos los pacientes con IDCV y ALX reciben tratamiento sustitutivo con gammaglobulina inespecífica (8 vía intravenosa y 14 (desde 2006) vía subcutánea) y todos los pacientes con IDCG, excepto 2, recibieron un trasplante de progenitores hematopoyéticos. La evolución de todos ellos fue buena excepto 8 IDCG (2 pre y 6 post-trasplante), 3 síndromes de Wiskott-Aldrich, 1síndrome de Di George completo, 1 enfermedad granulomatosa crónica y 1 ataxia-telangiectasia que fallecieron durante el seguimiento. Conclusiones: La mayoría de los pacientes incluidos en esta serie se presentaron clínicamente con las manifestaciones habitualmente descritas en la literatura, por lo que el conocimiento básico de estas entidades por parte del pediatra de primaria y la colaboración con hospitales de referencia con experiencia en las IDP, debe permitir un diagnóstico precoz de un número importante de IDP facilitando instaurar un tratamiento y un seguimiento adecuados y por lo tanto mejorar el pronóstico de estos pacientes (AU)

Introduction: More than 200 primary immunodeficiencies (PID) have been described and about60% present during childhood. Early diagnosis and treatment have been shown to improve patient outcome. Aim: Analysis of patients with a PID diagnosed in a paediatric tertiary care hospital-referral centre over a period of 10 years. Patients and methods: Medical records of all paediatric patients followed up in our unit were retrospectively reviewed. Clinical and epidemiological features, laboratory tests, therapy and outcome were analysed. Results: One hundred and eighty nine patients were followed up in this period of time. Antibody disorders were the most common diagnosis. In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and common variable immunodeficiency (CVID) patients, failure to thrive and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcusaureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in 22q11 deletion syndrome, skin abscesses and ecthyma gangrenosum in severe congenital neutropenia and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA). Lymphoproliferative disorders were common in CVID. No malignancies were observed during this period. One patient with XLA developed chronic encephalitis. All patients with CVID and XLA were receiving immunoglobulin replacement therapy (8 intravenous and 14 (since 2006) subcutaneous route) and in all but two SCID patients, stem cell transplantation was performed. Outcome was good in most of them except 8 SCID (2 prior and 6 after transplantation), 3 Wiskott-Aldrich syndrome, 1 complete Di George, 1 chronic granulomatous disease and 1 ataxia-telangiectasia patients who died during follow-up. Conclusion: The vast majority of patients included in this series presented with typical clinical features; therefore, basic knowledge of these entities in primary care and collaboration with hospital referral centres should allow a large number of PID in children to be diagnosed at anearly stage, leading to proper treatment and monitoring, and therefore improvement of patient prognosis (AU)

[Spectrum of primary immunodeficiencies in a tertiary hospital over a period of 10 years]. / Espectro de las inmunodeficiencias primarias en un hospital de tercer nivel en un periodo de 10 años.

INTRODUCTION: More than 200 primary immunodeficiencies (PID) have been described and about 60% present during childhood. Early diagnosis and treatment have been shown to improve patient outcome. AIM: Analysis of patients with a PID diagnosed in a paediatric tertiary care hospital-referral centre over a period of 10 years. PATIENTS AND METHODS: Medical records of all paediatric patients followed up in our unit were retrospectively reviewed. Clinical and epidemiological features, laboratory tests, therapy and outcome were analysed. RESULTS: One hundred and eighty nine patients were followed up in this period of time. Antibody disorders were the most common diagnosis. In our series, clinical presentation at diagnosis were: recurrent respiratory infections in selective IgA deficiency and common variable immunodeficiency (CVID) patients, failure to thrive and opportunistic infections (mainly viral infections) in patients with severe combined immunodeficiency (SCID), skin abscesses (Staphylococcus aureus, Serratia spp.) and complicated pneumonia (Aspergillus spp., Rhodococcus equi) in chronic granulomatous disease, congenital heart disease and consistent phenotype in 22q11 deletion syndrome, skin abscesses and ecthyma gangrenosum in severe congenital neutropenia and opportunistic infections and sepsis (Pseudomonas aeruginosa) in children with X-linked agammaglobulinaemia (XLA). Lymphoproliferative disorders were common in CVID. No malignancies were observed during this period. One patient with XLA developed chronic encephalitis. All patients with CVID and XLA were receiving immunoglobulin replacement therapy (8 intravenous and 14 (since 2006) subcutaneous route) and in all but two SCID patients, stem cell transplantation was performed. Outcome was good in most of them except 8 SCID (2 prior and 6 after transplantation), 3 Wiskott-Aldrich syndrome, 1 complete DiGeorge, 1 chronic granulomatous disease and 1 ataxia-telangiectasia patients who died during follow-up. CONCLUSION: The vast majority of patients included in this series presented with typical clinical features; therefore, basic knowledge of these entities in primary care and collaboration with hospital referral centres should allow a large number of PID in children to be diagnosed at an early stage, leading to proper treatment and monitoring, and therefore improvement of patient prognosis.

[Subcutaneous gammaglobulin in common variable immunodeficiency. First experience in Spain]. / Gammaglobulina subcutánea en inmunodeficiencia común variable. Primera experiencia en España.

INTRODUCTION AND AIM: Weekly home-based subcutaneous immunoglobulin (SCIg) therapy is an alternative to intravenous immunoglobulin (IVIg) in the treatment of patients with primary antibody deficiencies. The objective of this study was to investigate the efficacy, safety, related quality of life and cost effectiveness of SCIg in our area. MATERIALS AND METHODS: Observational and descriptive study including paediatric patients with common variable immunodeficiency (CVID) receiving SCIg in our hospital (November 2006 to April 2008). Obtained data were compared with those from the last year with IVIg. RESULTS: Eleven patients with CVID were included. Median age was 15 years. The median trough serum IgG level was 622 mg/dl with IVIg. In patients in whom the SCIg dose was maintained or reduced compared to IVIg, the median trough serum IgG level was 850 mg/dl (p < 0.0005). Annual rate of infection was 2.22 per patient-year, without significant differences to IVIg (p = 0.212). There were 58 treatment-related adverse events (AE) reported with SCIg (45 local AE and 13 systemic AE). The most frequent treatment-related adverse event was infusion-site reaction. Switching to home-based subcutaneous IgG treatment led to significant improvements in quality of life and substantial cost savings. CONCLUSIONS: We conclude that subcutaneous administration of 16% SCIg is a safe and cost-effective alternative to IVIg for replacement therapy of primary antibody deficiencies. Median trough serum IgG levels were higher with SCIg. Local AE were common but mild and the incidence decreased over time. Quality of life is significantly improved.

Gammaglobulina subcutánea en inmunodeficiencia común variable. Primera experiencia en España / Subcutaneous gammaglobulin in common variable immunodeficiency. First experience in Spain

Introducción y objetivo: la autoadministración semanal de gammaglobulina subcutánea (GGSC) domiciliaria es una alternativa en el tratamiento de las inmunodeficiencias primarias con déficit de producción de anticuerpos. El objetivo es comparar y evaluar la eficacia, la seguridad, la calidad de vida y el coste anual de GGSC y gammaglobulina intravenosa (GGIV) en nuestro medio. Material y métodos: estudio observacional y descriptivo de los pacientes pediátricos con inmunodeficiencia común variable (IDCV) que reciben GGSC en nuestro centro (noviembre 2006-abril 2008), en comparación con el último año de GGIV. Resultados: se incluyó a 11 pacientes afectos de IDCV. Mediana de edad, 15 años. Mediana de IgG plasmática valle con GGIV, 622 mg/dl. En los pacientes en que se mantuvo o se disminuyó la dosis de GGSC respecto a la de GGIV previa (7/8), la mediana de IgG fue 850 mg/dl (p<0,0005). Tasa de infección/paciente/año de 2,22, sin diferencias estadísticamente significativas respecto a GGIV (p=0,212). Se produjeron 58 reacciones adversas (45 locales, 13 sistémicas) en 41/506 infusiones. Las reacciones adversas locales más frecuentes fueron dolor y picor y como sistémicas, la cefalea. Todos los pacientes refirieron una mejora en su calidad de vida. El tratamiento con GGSC supuso un importante ahorro económico. Conclusiones: la terapia subcutánea es una alternativa coste-efectiva a la GGIV con una eficacia similar y un aumento de calidad de vida en los pacientes con IDCV. Las concentraciones plasmáticas valle de IgG obtenidas son iguales o mayores. Las reacciones adversas locales son frecuentes, pero leves y autolimitadas (AU)

Introduction and aim: Weekly home-based subcutaneous immunoglobulin (SCIg) therapy is an alternative to intravenous immunoglobulin (IVIg) in the treatment of patients with primary antibody deficiencies. The objective of this study was to investigate the efficacy, safety, related quality of life and cost effectiveness of SCIg in our area. Materials and methods: Observational and descriptive study including paediatric patients with common variable immunodeficiency (CVID) receiving SCIg in our hospital (November 2006 to April 2008). Obtained data were compared with those from the last year with IVIg. Results: Eleven patients with CVID were included. Median age was 15 years. The median trough serum IgG level was 622mg/dl with IVIg. In patients in whom the SCIg dose was maintained or reduced compared to IVIg, the median trough serum IgG level was 850mg/dl (p<0.0005). Annual rate of infection was 2.22 per patient-year, without significant differences to IVIg (p=0.212). There were 58 treatment-related adverse events (AE) reported with SCIg (45 local AE and 13 systemic AE). The most frequent treatment-related adverse event was infusion-site reaction. Switching to home-based subcutaneous IgG treatment led to significant improvements in quality of life and substantial cost savings. Conclusions: We conclude that subcutaneous administration of 16% SCIg is a safe and cost-effective alternative to IVIg for replacement therapy of primary antibody deficiencies. Median trough serum IgG levels were higher with SCIg. Local AE were common but mild and the incidence decreased over time. Quality of life is significantly improved (AU)

[Invasive pneumococcal disease and hemolytic uremic syndrome]. / Enfermedad neumocócica invasiva y síndrome hemolítico urémico.

INTRODUCTION: Streptococcus pneumoniae is an infrequent casual agent of hemolytic uremic syndrome (HUS) with more severity than classic HUS. CASE REPORT: We present two patients with pneumococcal pneumonia and empyema who developed HUS. One patient the renal function returned to normal and the other needed a renal transplantation. CONCLUSION: Pneumococcal invasive disease may be a cause of severe HUS, so a high index of suspicion is mandatory to prompt appropriate diagnosis and management.

Enfermedad neumocócica invasiva y síndrome hemolítico urémico / Invasive pneumococcal disease and hemolytic uremic syndrome

Introducción: Streptococcus pneumoniae es un agente etiológico infrecuente del síndrome hemolítico urémico (SHU) con una mayor gravedad que el SHU clásico. Casos clínicos: Presentamos 2 pacientes con pleuroneumonía neumocócica que desarrollaron SHU. En un caso la evolución fue hacia la normalización de la función renal y en el otro, hacia la insuficiencia renal, que requirió trasplante renal. Conclusión: La enfermedad neumocócica invasiva puede ser causa de SHU grave. Un alto índice de sospecha es necesario para un diagnóstico precoz y un adecuado tratamiento (AU)

Introduction: Streptococcus pneumoniae is an infreqüent casual agent of hemolytic uremic syndrome (HUS) with more severity than classic HUS. Case report: We present two patients with pneumococcal pneumonia and empyema who developed HUS. One patient the renal function returned to normal and the other needed a renal transplantation. Conclusion: Pneumococcal invasive disease may be a cause of severe HUS, so a high index of suspicion is mandatory to prompt appropriate diagnosis and management (AU)

[D-lactic acidosis in an 11-year-old patient with short bowel syndrome]. / Acidosis D-láctica en un paciente de 11 años con síndrome de intestino corto.

The short bowel syndrome is the result of a congenital or acquired loss of a large part of the small intestine. The most frequent causes of surgical resection of the intestine in infants are arterial or venous thrombosis, intestinal volvulus, necrotizing enterocolitis, and Crohn's disease. Symptoms include nutrient and electrolyte malabsorption, steatorrhea and diarrhea, which can result in failure to thrive. The consequences of extensive small bowel resections consist of nutritional deficiencies, gastric acid hypersecretion, nephrolithiasis, cholelithiasis and lactic acidosis. Of these, D-lactic acidosis is an infrequent but important complication because of the symptoms that it can produce. D-lactic acid in the human organism is generated by intestinal bacteria, D-lactate ingestion, or endogenous production in the methyl glycoxylase pathway. Neurological symptoms such as somnolence, ataxia or altered behavior in a patient with short bowel syndrome should make us think of D-lactic acidosis caused by bacterial overgrowth. We present the case of an 11-year-old boy with short bowel syndrome secondary to multiple resections during the postnatal period who was admitted to hospital for episodes of confusion and altered behavior. The diagnosis was lactic acidosis. Outcome was favorable due to prompt instauration of treatment.

Acidosis D-láctica en un paciente de 11 años con síndrome de intestino corto / D-lactic acidosis in an 11-year-old patient with short bowel syndrome

El síndrome de intestino corto es el resultado de la pérdida congénita (atresia intestinal) o adquirida, de gran parte de intestino delgado. Las causas más frecuentes de resección intestinal en la infancia son patologías como la trombosis arterial o venosa, los vólvulos intestinales, la enterocolitis necrosante o la enfermedad de Crohn. Su clínica consiste en malabsorción de nutrientes y electrólitos, junto con esteatorrea y diarrea que dificultan el desarrollo ponderoestatural. Las consecuencias de las resecciones extensas del intestino delgado son deficiencias nutricionales, hipersecreción de ácido gástrico, nefrolitiasis, colelitiasis y acidosis láctica. Dentro de éstas, la acidosis láctica representa una complicación poco frecuente pero importante por la sintomatología que puede presentar. El ácido D-láctico en el organismo es generado por bacterias del tracto intestinal, por ingesta de D-lactato o por producción endógena en la vía de la metil glucosilasa. La sintomatología neurológica (somnolencia, ataxia, alteraciones de la conducta) en un paciente afectado de intestino corto debe hacer pensar en un posible cuadro de acidosis D-láctica secundaria a sobrecrecimiento bacteriano intestinal. Se presenta el caso de un paciente de 11 años de edad con síndrome de intestino corto por múltiples resecciones durante el período posnatal que ingresa por episodios de disminución del estado de conciencia y alteración de la conducta, llegando al diagnóstico de acidosis láctica. La evolución fue favorable debido a la rápida instauración del tratamiento

The short bowel syndrome is the result of a congenital or acquired loss of a large part of the small intestine. The most frequent causes of surgical resection of the intestine in infants are arterial or venous thrombosis, intestinal volvulus, necrotizing enterocolitis, and Crohn's disease. Symptoms include nutrient and electrolyte malabsorption, steatorrhea and diarrhea, which can result in failure to thrive. The consequences of extensive small bowel resections consist of nutritional deficiencies, gastric acid hypersecretion, nephrolithiasis, cholelithiasis and lactic acidosis. Of these, D-lactic acidosis is an infrequent but important complication because of the symptoms that it can produce. D-lactic acid in the human organism is generated by intestinal bacteria, D-lactate ingestion, or endogenous production in the methyl glycoxylase pathway. Neurological symptoms such as somnolence, ataxia or altered behavior in a patient with short bowel syndrome should make us think of D-lactic acidosis caused by bacterial overgrowth. We present the case of an 11-year-old boy with short bowel syndrome secondary to multiple resections during the postnatal period who was admitted to hospital for episodes of confusion and altered behavior. The diagnosis was lactic acidosis. Outcome was favorable due to prompt instauration of treatment

Terapéutica antivírica en pediatría: situación actual y perspectivas de futuro / Antiviral therapy in pediatrics: present situation and future perspectives

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Lemierre syndrome in a previously healthy young girl.

UNLABELLED: Lemierre syndrome is a severe postanginal sepsis complicated by internal jugular thrombophlebitis. We report on a 14 y-old girl affected by high fever, shivering chills, headache, severe lateral neck pain, left ocular proptosis and general malaise. Magnetic resonance imaging of the head and neck showed right internal jugular vein and sigmoid sinus thrombosis. Fusobacterium sp. was identified in the blood culture. CONCLUSION: Our report is a reminder that Lemierre syndrome still exists and remains potentially life threatening. A high index of suspicion is necessary to prompt diagnosis and treatment.

Effectiveness and tolerability of ibuprofen-arginine versus paracetamol in children with fever of likely infectious origin.

UNLABELLED: The aim of this multicentre, double-blind, randomized study was to assess the paediatric antipyretic efficacy of a new ibuprofen formulation containing L-arginine for gastric protection, compared with the efficacy of paracetamol. For this purpose 100 patients were given ibuprofen-arginine (1 drop/kg: 6.67 mg/kg) and 99 paracetamol (4 drops/kg: 10.65 mg/kg). The main efficacy endpoint was the mean change in tympanic temperature 4 h after drug intake. Twelve patients were excluded because of early vomiting or spitting out the medication. The resulting efficacy analysis population included a total of 88 patients treated with ibuprofen-arginine and 87 with paracetamol. Mean change in tympanic temperature (degrees C) showed no difference between groups (p = 0.527) but more patients in the ibuprofen-arginine group attained a temperature reduction greater than 2 degrees C (p = 0.043). A total of 107 patients required antipyretic rescue medication, with a smaller proportion in the ibuprofen-arginine group. Although this was not statistically significant, a trend towards improved activity was observed (p = 0.100). Overall efficacy was judged from the recovery or improvement in 68.8% of patients in the ibuprofen-arginine group compared with 65.5% in the paracetamol group. Nineteen patients reported adverse events, with vomiting being the most common complaint, but no differences were detected between treatments. CONCLUSION: Based on the present results, ibuprofen-arginine oral drops have shown to be a safe, well-tolerated and potent paediatric antipyretic agent. Hence, ibuprofen-arginine should be considered as an adequate choice for the control of paediatric fever of likely infectious aetiology.

Profilaxis antibiótica de la infección urinaria. Revisión bibliográfica / Antibiotic prophylxis for urinary tract infections: review of the literature

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