Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients.

Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the right gland. The second patient is a 13-year-old female with uncommon hypercalcemia symptoms. Presence of pathogenic calcium-sensing receptor gene (CASR) mutation was found, resulting in diagnosis of symptomatic familial hypocalciuric hypercalcemia. Cinacalcet, a calcium-sensing agent that increases the sensitivity of the CASR, was used in both patients with successful results. LEARNING POINTS: Hyperparathyroidism is a rare condition in pediatric patients. If not treated, it can cause serious morbidity.Genetic tests searching for CASR or MEN1 gene mutations in pediatric patients with primary hyperparathyroidism should be performed.Cinacalcet has been effective for treating different causes of hyperparathyroidism in our two pediatric patients.Treatment has been well tolerated and no side effects have been detected.

Priorities for future research into asthma diagnostic tools: A PAN-EU consensus exercise from the European asthma research innovation partnership (EARIP).

The diagnosis of asthma is currently based on clinical history, physical examination and lung function, and to date, there are no accurate objective tests either to confirm the diagnosis or to discriminate between different types of asthma. This consensus exercise reviews the state of the art in asthma diagnosis to identify opportunities for future investment based on the likelihood of their successful development, potential for widespread adoption and their perceived impact on asthma patients. Using a two-stage e-Delphi process and a summarizing workshop, a group of European asthma experts including health professionals, researchers, people with asthma and industry representatives ranked the potential impact of research investment in each technique or tool for asthma diagnosis and monitoring. After a systematic review of the literature, 21 statements were extracted and were subject of the two-stage Delphi process. Eleven statements were scored 3 or more and were further discussed and ranked in a face-to-face workshop. The three most important diagnostic/predictive tools ranked were as follows: "New biological markers of asthma (eg genomics, proteomics and metabolomics) as a tool for diagnosis and/or monitoring," "Prediction of future asthma in preschool children with reasonable accuracy" and "Tools to measure volatile organic compounds (VOCs) in exhaled breath."

[Autologous blood pleurodesis for treatment of spontaneous pneumothorax and persistent air leak in pediatric patients]. / Pleurodesis con sangre autóloga en el tratamiento del neumotórax en pacientes pediátricos.

AIM OF THE STUDY: Recurrent spontaneous pneumothorax (SP) and persistent air leak (PAL) are a therapeutic challenge in some patients. Autologous blood pleurodesis (ABP) is an alternative treatment, but its usefulness in pediatric patients has not been determined yet. MATERIAL AND METHODS: Retrospective study of pediatric patients treated with ABP at our institution between 2010 and 2014, with special assessment of its indications, description of the technique, volume of blood used, complications and outcomes. RESULTS: During this period, 29 patients were treated for SP. 5 of them (17.2%) received ABP. Indications were: 2 patients with recurrent SP after thoracoscopic bullae resection and pleurodesis and 3 patients with PAL (1 after thoracoscopic bullae resection and 2 in lung transplantation candidates who were not suitable for surgery). Median age was 14.3 years (11.9-16.6) and volume of blood used was 50 ml (26-60). The air leak stopped in a median of 2.6 days (1-7). One patient needed a second ABP for PAL and another one presented an ipsilateral recurrence of SP after ABP. Follow up time was 2.21 years (0.49-3.42). No complications were observed. CONCLUSIONS: ABP is a cheap, safe and easy to perform procedure and may be considered as a therapeutic option in some pediatric patients with SP or PAL.

OBJETTIVOS: Los neumotórax recurrentes y la fuga aérea persistente (FAP) plantean dificultades terapéuticas en determinados pacientes. La pleurodesis con sangre autóloga (PSA) constituye una alternativa en su tratamiento, aunque su utilidad en pacientes pediátricos no ha sido determinada. MATERIAL Y METODOS: Estudio retrospectivo de los pacientes pediátricos tratados con PSA en nuestro centro entre los años 2010 y 2014, centrado en las indicaciones, descripción de la técnica de administración, cantidad de sangre empleada, complicaciones y resultados. RESULTADOS: Durante este periodo, 29 pacientes presentaron neumotórax espontáneos. En 5 de ellos (17,2%) se realizó PSA como método de rescate. Las indicaciones fueron: 2 recidivas de neumotórax tras resección de bullas y pleurodesis y 3 casos de fuga aérea persistente (1 tras resección toracoscópica de bullas subpleurales y en 2 candidatos a trasplante pulmonar con bullas en los que se descartó la cirugía). La mediana de edad fue de 14,3 años (11,9-16,6) y la cantidad de sangre empleada 50 ml (26-60). La fuga aérea se resolvió en una media de 2,6 días (1-7). Un paciente requirió una nueva PSA por persistencia de fuga aérea tras la primera administración y otro presentó una recurrencia posterior del neumotórax. El tiempo de seguimiento fue de 2.21 años (0,49-3,42). No se describieron otras complicaciones. CONCLUSIONES: La PSA es un método de fácil aplicación, seguro y económico que puede ser considerado como opción terapéutica de rescate en determinados pacientes pediátricos con neumotórax o fuga aérea persistente.

Protocolo de seguimiento de los pacientes con displasia broncopulmonar / Guidelines for the follow up of patients with bronchopulmonary dysplasia

La displasia broncopulmonar (DBP) es la secuela más prevalente del recién nacido pretérmino, y sigue suponiendo un motivo frecuente de consulta en las unidades de Neumología Pediátrica. La decisión del alta de la unidad neonatal debe apoyarse en una valoración exhaustiva de la situación clínica del paciente y en el cumplimiento de unos requisitos, que incluyen la estabilidad respiratoria y nutricional, y la instrucción a los cuidadores en el manejo domiciliario. Para un control adecuado de la enfermedad, es necesario que quede establecido, previamente al alta, un calendario de visitas y de exploraciones complementarias, y deben aplicarse las pautas de prevención de exacerbaciones y el tratamiento apropiados. El concepto de DBP como enfermedad multisistémica es fundamental en el seguimiento de los pacientes y debe ser tenido en cuenta para un buen control de la enfermedad. En este documento, el Grupo de Trabajo de Patología Respiratoria Perinatal de la Sociedad Española de Neumología Pediátrica propone un protocolo que sirva como referencia para unificar el seguimiento de los pacientes con DBP entre los diferentes centros y ámbitos asistenciales. Se revisan los aspectos a tener en cuenta en la evaluación previa al alta de la Unidad Neonatal y las principales complicaciones durante el seguimiento. Seguidamente, se detallan las recomendaciones en materia de tratamiento de la enfermedad y prevención de complicaciones, los controles tras el alta y su cronología

Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD

Pleurodesis con sangre autóloga en el tratamiento del neumotórax en pacientes pediátricos / Autologous blood pleurodesis for treatment of spontaneous pneumothorax and persistent air leak in pediatric patients

Objetivos. Los neumotórax recurrentes y la fuga aérea persistente (FAP) plantean dificultades terapéuticas en determinados pacientes. La pleurodesis con sangre autóloga (PSA) constituye una alternativa en su tratamiento, aunque su utilidad en pacientes pediátricos no ha sido determinada. Material y métodos. Estudio retrospectivo de los pacientes pediátricos tratados con PSA en nuestro centro entre los años 2010 y 2014, centrado en las indicaciones, descripción de la técnica de administración, cantidad de sangre empleada, complicaciones y resultados. Resultados. Durante este periodo, 29 pacientes presentaron neumotórax espontáneos. En 5 de ellos (17,2%) se realizó PSA como método de rescate. Las indicaciones fueron: 2 recidivas de neumotórax tras resección de bullas y pleurodesis y 3 casos de fuga aérea persistente (1 tras resección toracoscópica de bullas subpleurales y en 2 candidatos a trasplante pulmonar con bullas en los que se descartó la cirugía). La mediana de edad fue de 14,3 años (11,9-16,6) y la cantidad de sangre empleada 50 ml (26-60). La fuga aérea se resolvió en una media de 2,6 días (1-7). Un paciente requirió una nueva PSA por persistencia de fuga aérea tras la primera administración y otro presentó una recurrencia posterior del neumotórax. El tiempo de seguimiento fue de 2.21 años (0,49-3,42). No se describieron otras complicaciones. Conclusiones. La PSA es un método de fácil aplicación, seguro y económico que puede ser considerado como opción terapéutica de rescate en determinados pacientes pediátricos con neumotórax o fuga aérea persistente

Aim of the study. Recurrent spontaneous pneumothorax (SP) and persistent air leak (PAL) are a therapeutic challenge in some patients. Autologous blood pleurodesis (ABP) is an alternative treatment, but its usefulness in pediatric patients has not been determined yet. Material and methods. Retrospective study of pediatric patients treated with ABP at our institution between 2010 and 2014, with special assessment of its indications, description of the technique, volume of blood used, complications and outcomes. Results. During this period, 29 patients were treated for SP. 5 of them (17.2%) received ABP. Indications were: 2 patients with recurrent SP after thoracoscopic bullae resection and pleurodesis and 3 patients with PAL (1 after thoracoscopic bullae resection and 2 in lung transplantation candidates who were not suitable for surgery). Median age was 14.3 years (11.9-16.6) and volume of blood used was 50 ml (26-60). The air leak stopped in a median of 2.6 days (1-7). One patient needed a second ABP for PAL and another one presented an ipsilateral recurrence of SP after ABP. Follow up time was 2.21 years (0.49-3.42). No complications were observed. Conclusions. ABP is a cheap, safe and easy to perform procedure and may be considered as a therapeutic option in some pediatric patients with SP or PAL

[Guidelines for the follow up of patients with bronchopulmonary dysplasia]. / Protocolo de seguimiento de los pacientes con displasia broncopulmonar.

Bronchopulmonary dysplasia (BPD) is the most common complication of preterm birth, and remains a major problem in pediatric pulmonology units. The decision of discharging from the Neonatal Unit should be based on a thorough assessment of the condition of the patient and compliance with certain requirements, including respiratory and nutritional stability, and caregiver education on disease management. For proper control of the disease, a schedule of visits and complementary tests should be established prior to discharge, and guidelines for prevention of exacerbations and appropriate treatment should be applied. In this paper, the Working Group in Perinatal Respiratory Diseases of the Spanish Society of Pediatric Pulmonology proposes a protocol to serve as a reference for the follow up of patients with BPD among different centers and health care settings. Key factors to consider when planning discharge from the Neonatal Unit and during follow up are reviewed. Recommendations on treatment and prevention of complications are then discussed. The final section of this guide aims to provide a specific schedule for follow-up and diagnostic interventions to be performed in patients with BPD.

Neumonía adquirida en la comunidad: tratamiento ambulatorio y prevención / Community acquired pneumonia in children: Outpatient treatment and prevention

La neumonía adquirida en la comunidad (NAC) en la edad pediátrica ha sufrido, en la última década, una serie de cambios epidemiológicos, clínicos, etiológicos y de resistencias a antibióticos, que obligan a replantear su abordaje terapéutico. En este documento, dos de las principales sociedades de especialidades pediátricas involucradas en el diagnóstico y tratamiento de esta entidad, como son la Sociedad Española de Infectología Pediátrica y la Sociedad Española de Neumología Pediátrica, así como el Comité Asesor de Vacunas de la AEP, proponen unas pautas consensuadas de tratamiento y prevención, con el fin de proporcionar a todos los pediatras una guía actualizada. En esta primera parte del consenso, se aborda el tratamiento de los pacientes sin enfermedades de base relevantes con NAC que no precisan ingreso hospitalario, así como la prevención global de esta patología con vacunas. En un siguiente documento se expondrá el abordaje terapéutico tanto de aquellos pacientes en situaciones especiales como de las formas complicadas de la enfermedad

There have been significant changes in community acquired pneumonia (CAP) in children in the last decade. These changes relate to epidemiology and clinical presentation. Resistance to antibiotics is also a changing issue. These all have to be considered when treating CAP. In this document, two of the main Spanish pediatric societies involved in the treatment of CAP in children, propose a consensus concerning therapeutic approach. These societies are the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases. The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) has also been involved in the prevention of CAP. An attempt is made to provide up-to-date guidelines to all paediatricians. The first part of the statement presents the approach to ambulatory, previously healthy children. We also review the prevention with currently available vaccines. In a next second part, special situations and complicated forms will be addressed

Neumonía adquirida en la comunidad: tratamiento de los casos complicados y en situaciones especiales. Documento de consenso de la Sociedad Española de Infectología Pediátrica (SEIP) y Sociedad Española de Neumología Pediátrica (SENP) / Community acquired pneumonia in children: Treatment of complicated cases and risk patients. Consensus statement by the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Chest Diseases (SENP)

Desde hace más de una década, los casos complicados de neumonía adquirida en la comunidad, fundamentalmente con empiema pleural o formas necrosantes, comenzaron a ser más frecuentes en niños, según la amplia documentación procedente de numerosos países. El abordaje terapéutico óptimo de estos casos, tanto desde el punto de vista médico (antibióticos, fibrinolíticos) como técnico-quirúrgico, (drenaje pleural, videotoracoscopia) continúa siendo controvertido. En este documento, la Sociedad Española de Infectología Pediátrica y la Sociedad Española de Neumología Pediátrica revisan la evidencia científica y proponen unas pautas consensuadas de tratamiento de estos casos, fundamentalmente para el abordaje del derrame pleural paraneumónico en niños, así como la actuación en situaciones especiales, sobre todo en la cada vez más frecuente población pediátrica con enfermedades de base o inmumodepresión

The incidence of community-acquired pneumonia complications has increased during the last decade. According to the records from several countries, empyema and necrotizing pneumonia became more frequent during the last few years. The optimal therapeutic approach for such conditions is still controversial. Both pharmacological management (antimicrobials and fibrinolysis), and surgical management (pleural drainage and video-assisted thoracoscopic surgery), are the subject of continuous assessment. In this paper, the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases have reviewed the available evidence. Consensus treatment guidelines are proposed for complications of community-acquired pneumonia in children, focusing on parapneumonic pleural effusion. Recommendations are also provided for the increasing population of patients with underlying diseases and immunosuppression

[Community acquired pneumonia in children: Treatment of complicated cases and risk patients. Consensus statement by the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Chest Diseases (SENP)]. / Neumonía adquirida en la comunidad: tratamiento de los casos complicados y en situaciones especiales. Documento de consenso de la Sociedad Española de Infectología Pediátrica (SEIP) y Sociedad Española de Neumología Pediátrica (SENP).

The incidence of community-acquired pneumonia complications has increased during the last decade. According to the records from several countries, empyema and necrotizing pneumonia became more frequent during the last few years. The optimal therapeutic approach for such conditions is still controversial. Both pharmacological management (antimicrobials and fibrinolysis), and surgical management (pleural drainage and video-assisted thoracoscopic surgery), are the subject of continuous assessment. In this paper, the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases have reviewed the available evidence. Consensus treatment guidelines are proposed for complications of community-acquired pneumonia in children, focusing on parapneumonic pleural effusion. Recommendations are also provided for the increasing population of patients with underlying diseases and immunosuppression.

Monitorización del tratamiento en el asma bronquial mediante determinación de fracción exhalada de óxido nítrico, eosinófilos y leucotrieno B4 en esputo inducido de población infantil / Determining asthma treatment in children by monitoring fractional exhaled nitric oxide, sputum eosinophils and leukotriene B4

Los eosinófilos en esputo inducido y la fracción exhalada de óxido nítrico (FENO) constituyen marcadores de inflamación en el asma, producida por citocinas, cisteinil-leucotrienos y leucotrieno B4 (LTB4). El objetivo de este trabajo es determinar su utilidad en la monitorización del tratamiento del asma en niños. Se realizó determinación de FENO, eosinófilos y LTB4 en esputo inducido a 10 niños (9-15 años) asmáticos y 4 meses después, tras iniciar o incrementar el tratamiento de base, se volvieron a repetir las mismas determinaciones. Se apreció una tendencia a la disminución de los valores de la FENO (p = 0,15), una mejoría de la función pulmonar (p = 0,10) y una disminución significativa del porcentaje de eosinófilos (p = 0,003) respecto a la determinación basal. No hubo diferencias en la concentración de LTB4 (p = 0,88). El recuento de eosinófilos en esputo parece una determinación más precisa para el seguimiento de la inflamación en los niños asmáticos que la FEno

Sputum eosinophils and exhaled fractional nitric oxide (FENO) are markers of airway inflammation in asthma. Cytokines, cysteinyl-leukotrienes and leukotriene B4 (LTB4) are responsible for this inflammation.The aim of this study is to determine the usefulness of these markers in monitoring asthma treatment in children.FENO, sputum eosinophils, and LTB4 in induced sputum were performed in 10 children (9-15 years old). These determinations were repeated four months later, after the beginning oran increase in the treatment. FENO values tended to decrease (P=.15), pulmonary function tended to improve (P=.10), and sputum eosinophils decreased (P=.003) compared to the first determination. There were no differences in LTB4 concentrations (P=.88). Sputum eosinophils seem to be more precise than FENO in the monitoring of inflammation inasthmatic children

[Determining asthma treatment in children by monitoring fractional exhaled nitric oxide, sputum eosinophils and leukotriene B4]. / Monitorización del tratamiento en el asma bronquial mediante determinación de fracción exhalada de óxido nítrico, eosinófilos y leucotrieno B4 en esputo inducido de población infantil.

Sputum eosinophils and exhaled fractional nitric oxide (FENO) are markers of airway inflammation in asthma. Cytokines, cysteinyl-leukotrienes and leukotriene B4 (LTB4) are responsible for this inflammation. The aim of this study is to determine the usefulness of these markers in monitoring asthma treatment in children. FENO, sputum eosinophils, and LTB4 in induced sputum were performed in 10 children (9-15 years old). These determinations were repeated four months later, after the beginning or an increase in the treatment. FENO values tended to decrease (P=.15), pulmonary function tended to improve (P=.10), and sputum eosinophils decreased (P=.003) compared to the first determination. There were no differences in LTB4 concentrations (P=.88). Sputum eosinophils seem to be more precise than FENO in the monitoring of inflammation in asthmatic children.

[Community acquired pneumonia in children: Outpatient treatment and prevention]. / Neumonía adquirida en la comunidad: tratamiento ambulatorio y prevención.

There have been significant changes in community acquired pneumonia (CAP) in children in the last decade. These changes relate to epidemiology and clinical presentation. Resistance to antibiotics is also a changing issue. These all have to be considered when treating CAP. In this document, two of the main Spanish pediatric societies involved in the treatment of CAP in children, propose a consensus concerning therapeutic approach. These societies are the Spanish Society of Paediatric Infectious Diseases and the Spanish Society of Paediatric Chest Diseases. The Advisory Committee on Vaccines of the Spanish Association of Paediatrics (CAV-AEP) has also been involved in the prevention of CAP. An attempt is made to provide up-to-date guidelines to all paediatricians. The first part of the statement presents the approach to ambulatory, previously healthy children. We also review the prevention with currently available vaccines. In a next second part, special situations and complicated forms will be addressed.

Assessing pulmonary hypertensive vascular disease in childhood. Data from the Spanish registry.

RATIONALE: There is a lack of knowledge regarding the epidemiology, clinical characterization, and survival in pediatric pulmonary hypertension. OBJECTIVES: To describe the epidemiology, outcomes, and risk factors for mortality in pediatric pulmonary hypertension in Spain. METHODS: We analyzed data from the Spanish Registry for Pediatric Pulmonary Hypertension. From January 2009 to June 2012, a total of 225 patients diagnosed with pulmonary hypertension in 1998 or after were collected from 21 referral and nonreferral centers. We included all Nice etiologies, estimated incidence and prevalence of pulmonary hypertension in the Spanish pediatric population, and analyzed risk factors for mortality (Nice etiologic group, clinical and hemodynamic variables). Patients were classified as follows: group I, pulmonary arterial hypertension (n = 142; 61%); group II, left heart disease (n = 31; 14%); group III, respiratory disease (n = 41; 18%); group IV, thromboembolic pulmonary hypertension (n = 2; 1%); or group V, mostly inherited metabolic diseases (n = 10; 4.5%). Of the patients studied, 31% had multifactorial pulmonary hypertension. MEASUREMENTS AND MAIN RESULTS: Mean age at diagnosis was 4.3 ± 4.9 years (50% < 2 yr). Survival rates at 1 and 3 years were 80 and 74% for the whole cohort, and 89 and 85% for patients with pulmonary arterial hypertension. Independent risk factors for mortality included an etiologic group other than pulmonary arterial hypertension (P < 0.001), age at diagnosis younger than 2 years old (P < 0.001), advanced functional class at diagnosis (P < 0.001), and high right atrial pressure at diagnosis (P = 0.002). CONCLUSIONS: In moderate to severe pediatric pulmonary hypertension, the prognosis is better in pulmonary arterial hypertension than in other Nice categories. In pediatric pulmonary hypertension age at diagnosis younger than 2 years is a risk factor for mortality, in addition to the previously established risk factors.

Trasplante pediátrico pulmonar / Pediatric lung transplantation

El trasplante pulmonar constituye la última alternativa para los niños con una enfermedad pulmonar terminal cuando se han agotado todo los recursos terapéuticos. En las dos últimas décadas se ha experimentado una vance consideable en la supervivencia de lso niños trasplantados de pulmón, por las mejoras en la técnica del trasplante, la preervación de los órganos, el manejo perioperatorio y la inmunosupresión. El programa de trasplatne pulmonar pediátrico en el Hospital Universitari Vall d´Hebron se inició en el año 1996. En nuestro hospital se han realizado 672 trasplantes entre los años 1990 y 2012, de los que 51 (7,6%) corresponde a trasplantes pediátricos (menores de 18 años). La indicación más frecuente para el trasplante en los iños es la fibrosis quística. En nuestro centro, la fibrosis quística ha representado solo el 8,7% de los traplantes realizados enmenores de 11 años y el 86% de los realizados entre 12 y 17 años. Los otros grupos importantes de indicaciones los constituyen las enfermedades vasculares pulmonares (hipertensión pulmonar) y las neumopatías intersticiales crónicas. La superviviencia de los niños trasplantados en nuestro entro es similar a la reflejada en el registro internacional: 55% a los 5 años y 47% a los 7 años (AU)

Lung trasplantation has become an accepted therapeutic option for children with end-stage lung disease. Advances have been made over the last 2 decades in lung transplantation concerning the procurement and presevation of donor lung, surgical techniques, early post-operative care and immunosuppression. The pediatric lung transplant program at Hospital Universitari Vall d´Heborn was started in 1996. A total of 672 lung tansplants have been performed in our hospital since 1990, with 51 (7.6%) corresponding to children (younger than 18 years). Cystic fibrosis is the leading cause for pediatric patients to requere lung transplantation. In our hospital cystic fibrosis represent only 8.7% of lung transplants in children less tha 11 years-old, but 86% in children 12-17 years old. Other important indications for lung trnasplantation in children are pediatric forms of interstitial lung dieases and pulmonary vascular disorders (mainly pulmonary hypertension). Actuarial survival is our center (55% at 5 years and 47% at 7 years) is similar to survival published in the International Registry (AU)

Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.

We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.

Induced sputum cell count and cytokine profile in atopic and non-atopic children with asthma.

BACKGROUND AND AIM: Sputum induction is a semi-invasive technique used to detect and monitor airway inflammation. In this study, the cell profile, and Th1 and Th2 cytokine levels in induced sputum of asthmatic and healthy children (HC) are compared. METHODS: Sputum induction was performed in healthy and asthmatic children by inhalation of hypertonic saline solution. Differential cell count in the specimen obtained was carried out using optic microscopy. IFN-γ, IL-2, IL-10, IL-8, IL-6, IL-4, IL-5, IL-1ß, TNF-α, and IL-12p70 levels were determined in sputum sample supernatants by flow cytometry. RESULTS: Sputum induction was performed in 31 HC and 77 asthmatic children (60 atopic and 17 non-atopic asthma, NAA). Twenty-four samples were obtained in HC and 64 in patients. Median eosinophil count in atopic asthma (AA; 2%) was higher than in NAA (P = 0.02) or HC (P = 0.01). IL-4, IL-5, IFNγ, IL-2, and IL-12p70 concentrations were higher in AA than in NAA or HC. IL-8 was higher in asthmatic children (atopic and non-atopic) than in healthy ones. IL-10 was higher in the healthy group than in the AA group (P = 0.02). CONCLUSIONS: As compared to HC, the inflammatory profile in induced sputum of children with asthma showed an increase in proinflammatory cytokines. Concentrations of IL-10, an anti-inflammatory cytokine, were lower in children with AA than in HC.

Neumonías recurrentes / Recurrent pneumonias

Se define como neumonía recurrente la ocurrencia de al menos 2 episodios de neumonía en un año, o 3 episodios en diferentes momentos de la vida. Para su estudio debemos seguir un enfoque sistemático y progresivo, partiendo de la historia clínica y seleccionando las exploraciones más adecuadas. Se analizan las principales causas de recurrencia de las neumonías en los niños y se proporciona una sistemática de estudio racional. Los aspectos fundamentales de la anamnesis incluyen la sintomatología de los episodios, sintomatología intercurrente, localización de las neumonías y resolución radiológico o no. El estudio sistemático basado en una adecuada anamnesis y examen físico y uso juicioso de las exploraciones complementarias (estudio inmunoalérgico, función pulmonar, pruebas de imagen, broncoscopia, otras pruebas específicas) permite llegar el diagnóstico de las causas subyacentes de las neumonías recurrentes en el 80-90% de los casos (AU)

Recurrent pneumonia is defined as the occurrence of at least 2 episodes of pneumonia in one year or 3 episodes at different moments of one's life. To study it, we should follow a systematic and progressive approach, beginning with the clinical history and selecting the most adequate examinations. The principal causes of recurrence of pneumonias in children are analyzed and a systematic of rational study is provided. The fundamental aspects of the anamnesis include the symptoms of the episodes, intercurrent symptoms, localization of the pneumonias and radiological resolution or not. The systematic study based on adequate anamnesis and physical examination and sensible use of the complementary examinations (inmunoallergic study, pulmonary function, imaging test, bronchoscopy, other specific tests) make it possible to reach the diagnosis of the underlying causes of the recurrent pneumonias in 80-90% of the cases (AU)

Qué debemos saber de la dermatitis atópica en la infancia. Actualización terapéutica / What should be known about atopic dermatitis in childhood. Therapeutic up-date

La dermatitis atópica (DA) es una enfermedad inflamatoria, crónica, recurrente, cuyo síntoma principal es el prurito y cuya prevalencia es elevada especialmente en la edad pediátrica. La DA repercute negativamente en diferentes esferas de la calidad de vida de los pacientes, y en particular en los niños, ya que la alteración del sueño, de las actividades escolares y de ocio, a nivel emocional, etc, afectan de forma sustancial al entorno familiar y social por lo que es muy importante la participación activa del médico y la educación del paciente y los padres para un optimo abordaje de esta patología. La fisiopatología de la DA es compleja, interviniendo factores genéticos, inmunológicos y ambientales. Se ha evidenciado que tras la resolución e un brote, la piel aparentemente no lesionada presenta inflamación subclínica. Este hallazgo, junto con la disfunción de la barrera epidérmica característica de la piel atópica, es el fundamento de un nuevo paradigma de tratamiento cuyo objetivo no es sólo tratar el brote, si no controlar más a largo plazo la enfermedad (AU)

Atopic dermatitis (AD is a chronic, recurrent, inflammatory disease, whose principal symptom is pruritus and who prevalence is especially high in the pediatric age. AD has a negative repercussion in different areas of the quality of life of the patients, and especially in children, since the alteration of sleep, school and leisure activities on the emotional level, etc. has a substantial effects on the family and social setting. Thus, active participation of the physician and the education of the patient and parents are very important for an optimum approach to this disease. The pathophysiology of AD is complex, with the intervention of genetic, immunological and environmental factors. It has been observed that there is subclinical inflammation in the apparently non-injured skin after the resolution of an episode. This finding, together with the dysfunction of the epidermal barrier that is characteristic of atopic skin, is the basis of a new paradigm of treatment whose objective is not only to treat the episode but also to control the disease more in the longer term (AU)

Bilateral lung transplantation for pediatric idiopathic pulmonary arterial hypertension: a multi-center experience.

Many children with idiopathic pulmonary arterial hypertension (IPAH) experience disease progression despite advanced medical therapy. In these children, heart-lung or bilateral lung transplantation (BLTx) remain the only therapeutic options when other treatments fail. Data on functional outcome after BLTx in children with IPAH are limited. We report a multi-center experience of BLTx for pediatric IPAH. We performed a retrospective study including 25 centers within the International Pediatric Lung Transplant Collaborative. Children with IPAH who underwent BLTx were included (1996-2006). Twenty-three children underwent BLTx for IPAH, most of whom were in WHO class III or IV level of function pre-transplantation. At 6 months post-transplantation, 82% of children reported improvement in level of function to WHO class I. The median FEV(1) was 89% (12-126) of predicted at 12 months post-transplantation. Ten patients (44%) developed BOS at a median of 42 months (3-85), of whom five died at a median of 27 months (4-86) post-transplantation. Overall mortality was 4% at 3 months post-transplantation. The median survival for children in this cohort was 45 months (2-123). Our data suggest that BLTx is a valuable therapeutic option for children with end-stage IPAH with outcomes comparable to that after heart-lung transplantation in children with pulmonary arterial hypertension or those patients undergoing lung transplantation for other indications. In the majority of children, a good cardiopulmonary function is possible following BLTx, making BLTx a good therapeutic option and maximizing donor organ utilization by allowing more hearts to be available for children needing cardiac transplantation.

Hipertensión pulmonar en Pediatría / Pulmonary hypertension in pediatrics

En la hipertensión pulmonar (HTP) en el niño podemos encontrar prácticamente cualquiera de las etiologías de la clasificación de la OMS y patologías específicas de la edad pediátrica, como la hipertensión pulmonar persistente del recién nacido, o la asociada a enfermedades metabólicas, aunque sin duda el grupo más numerosos lo constituye el de la hipertensión pulmonar asociada a cardiopatía congénita. Carecemos de clasificaciones, documentos de consenso y protocolos diagnósticos y terapéuticos específicos para la HTP pediátrica, a la que por defecto se aplican los protocolos creados para la enfermedad del adulto. Sin embargo, en los últimos años, se ha puesto de manifiesto que el espectro de la HTP en el niño es mucho más complejo y heterogéneo que en el adulto, siendo muy frecuente asociación de síndromes polimalformativos o cromosomopatías en los enfermos pediátricos con HTP. La publicación de registros de HTP pediátrica, como el de Suiza, Reino Unido, Holanda o Francia ha aportado información sobre la epidemiología de esta enfermedad en los niños, con prevalencia para la HTP idiopática en torno a 3,7 casos /millón de habitantes (similares a las reportadas en los adultos). La forma más frecuente de HTP en el niño es la asociada a cardiopatía congénita (tanto reparada como no reparada), que supone más de 50% de todas las series. También se han publicado interesantes revisiones sobre el diagnóstico, sobre los valores normales para el test de los 6 minutos en niños y marcadores biológicos como el ác. Úrico o el BNP, que han facilitado la estratificación del riesgo de los pacientes pediátricos con HTP. Se revisan los distintos protocolos de tratamiento de la hipertensión arterial en el niño (AU)

In pulmonary hypertension (PHT) in the child, we may find almost any one of the etiologies of the WHO classification and specific conditions of the pediatric age, such as persistent pulmonary hypertension of the newborn, or that associated to metabolid diseases, although undoubtedly the most numerous group is made up of those with pulmonary hypertension associated to congenital heart disease. We lack classifications, consensus documents, and diagnostic and therapeutic protocols specific for pediatric PHT, for which, the protocols created for the disease of the adults are applied. However, in recent years, it has become manifest that the spectrum of the PHT in the child is much more complex and heterogeneous than in the adult, cases with multifactorial etiologies are common in the pediatric pulmonary hypertension, and also the association of multiple congenital malformation syndromes or chromosomopathies in the pediatric patients with PHT. The publication of registries of pediatric PHT, as that of Switzerland, the United Kingdom, Holland, or France, have provided information on the epidemiology of this disease in children, with prevalence’s for idiopathic PHT at approximately 3.7 cases/million inhabitants (similar to those reported in the adult). The most frequent form of PHT in the child is that associated with congenital heart disease (bot repaired and not repaired), that accounts for more than 50% of all the series. Interesting reviews have also been published on the diagnosis, on the normal values for the 6-minute test in children, and biological markers such as that of uric acid or BNP, that have facilitated the stratification of risk of the pediatric patients with PHT. The different arterial hypertension treatment protocols in the child are reviewed (AU)