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[Background] Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain., [Methods] Multicentre observational prospective study in patients from 0 to 18 years of age with chILD to analyse its incidence and prevalence in Spain, based on data reported in 2018 and 2019., [Results] A total of 381 cases with chILD were notified from 51 paediatric pulmonology units all over Spain, covering the 91.7% of the paediatric population. The average incidence of chILD was 8.18 (CI 95% 6.28–10.48) new cases/million of children per year. The average prevalence of chILD was 46.53 (CI 95% 41.81–51.62) cases/million of children. The age group with the highest prevalence were children under 1 year of age. Different types of disorders were seen in children 2–18 years of age compared with children 0–2 years of age. Most frequent cases were: primary pulmonary interstitial glycogenosis in neonates (17/65), neuroendocrine cell hyperplasia of infancy in infants from 1 to 12 months (44/144), idiopathic pulmonary haemosiderosis in children from 1 to 5 years old (13/74), hypersensitivity pneumonitis in children from 5 to 10 years old (9/51), and scleroderma in older than 10 years old (8/47)., [Conclusions] We found a higher incidence and prevalence of chILD than previously described probably due to greater understanding and increased clinician awareness of these rare diseases., [Antecedentes] Las neumopatías intersticiales pediátricas, también conocidas con el acrónimo chILD (del inglés children's Interstitial Lung Diseases), es un grupo heterogéneo de enfermedades raras con morbimortalidad relevante, cuyo diagnóstico y clasificación son complejos. Los estudios epidemiológicos son escasos. El objetivo de este trabajo fue analizar la incidencia y la prevalencia de chILD en España., [Métodos] Estudio prospectivo observacional multicéntrico en pacientes de 0 a 18 años afectos de chILD para analizar la incidencia y la prevalencia en España, a partir de datos recogidos en 2018 y 2019., [Resultados] Se recogieron 381 casos de chILD entre 51 unidades de neumología pediátrica de toda España, que cubrían el 91,7% de la población pediátrica. La incidencia promedio fue 8,18 (IC 95%: 6,28-10,48) casos nuevos/millón de niños por año. La prevalencia promedio fue de 46,53 (IC 95%: 41,81-51,62) casos/millón de niños. El grupo de edad con mayor prevalencia fue el de niños menores de un año. Se observaron diferentes entidades en niños de 2 a 18 años en comparación con niños de 0 a 2 años. Los diagnósticos más frecuentes fueron: glucogenosis intersticial pulmonar primaria en neonatos (17/65), hiperplasia de células neuroendocrinas en lactantes de uno a 12 meses (44/144), hemosiderosis pulmonar idiopática en niños de uno a 5 años (13/74), neumonía por hipersensibilidad en niños de 5 a 10 años (9/51) y esclerodermia en mayores de 10 años (8/47)., [Conclusiones] Encontramos una mayor incidencia y prevalencia de chILD que las descritas previamente, probablemente debido a un mayor conocimiento y detección de estas enfermedades raras.

131 p., Este proyecto forma parte de un estudio epidemiológico, multicéntrico, prospectivo y de ámbito nacional, diseñadopara el estudio de la función pulmonar en niños nacidos pretérminos entre 30 y 35+6 semanas de gestación y sincomorbilidades, comparado con un grupo de recién nacidos a término sanos. El estudio ha sido coordinadoconjuntamente por las secciones de Neumología Infantil de los Hospitales Universitarios Donostia, en San Sebastián,y Vall d'Hebron, en Barcelona. Hemos realizado este estudio en una cohorte de niños en edad preescolar porque apesar de haberse publicado gran número de artículos acerca de la función pulmonar durante la época de lactante,existen pocos proyectos que hayan estudiado la función pulmonar en etapas posteriores. En la primera fase de esta investigación se estudió la función pulmonar y morbilidad respiratoria de lactantes nacidos pretérmino (entre 30 y 35+6 semanas de gestación) sanos, durante los primeros 18 meses de vida. Se objetivó que existían diferencias en lafunción pulmonar, concretamente en Crs (complianza del sistema respiratorio) y en VmaxFRC (flujo espiratoriomáximo de la capacidad funcional residual), entre los recién nacidos a término y dichos prematuros a los 6 meses deedad corregida, no manteniéndose estas diferencias a los 18 meses de edad. En la segunda fase de la investigación, seha continuado estudiando a los mismos sujetos durante la etapa preescolar, es decir hasta los 6 años de vida ±12meses, para poder valorar la influencia de la prematuridad en el desarrollo de la función pulmonar (valorada mediante espirometría forzada, medición de resistencia específica de la vía aérea mediante pletismografía y pruebabroncodilatadora). Como objetivos secundarios, también hemos querido determinar la incidencia de la patología de lavía aérea (bronquiolitis, sibilancias recurrentes y/o asma) y analizar el desarrollo de la función pulmonar en la edadpreescolar mediante la comparación de la función pulmonar en lactantes nacidos pretér

Pendents, Universitat Autònoma de Barcelona. Programa de Doctorat en Pediatria, Obstetrícia i Ginecologia

Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement.Methods A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering diagnostic microbiology, infection prevention for specific pathogens considered indicated for treatment and segregation aspects. Using a modified Delphi process, consensus to a statement demanded at least 80% agreement within the PCD expert panel group. Patient organisation representatives were involved throughout the process.Results We present a consensus statement on 20 IP&C statements for PCD including suggested actions for microbiological identification, indications for treatment of Pseudomonas aeruginosa, Burkholderia cepacia and nontuberculous mycobacteria and suggested segregation aspects aimed to minimise patient-to-patient transmission of infections whether in-hospital, in PCD clinics or wards, or out of hospital at meetings between people with PCD. The statement also includes segregation aspects adapted to the current coronavirus disease 2019 (COVID-19) pandemic.Conclusion The first ever international consensus statement on IP&C intended specifically for PCD is presented and is targeted at clinicians managing paediatric and adult patients with PCD, microbiologists, patient organisations and not least the patients and their families.

Rare diseases are collectively common, affecting an estimated 6.2% of the world's population [1], but each rare disease affects fewer than 4 to 5 in 10 000 individuals in Europe or less than 200 000 individuals in the USA [2]. Patients with rare diseases are often disadvantaged by late diagnosis and off-label prescribing of medicines [3]. Primary ciliary dyskinesia (PCD) is a genetic disease of impaired motile ciliary function that does not have a unique International Classification of Diseases (ICD)-10 code or licensed treatments, although Q34.8 denoting "other specified malformations of the respiratory tract" including nasopharyngeal atresia has also been applicable to PCD since 2017. The disease is characterised by mucus stagnation leading to chronic airway infection, bronchiectasis, chronic rhinosinusitis, reduced fertility and abnormalities of organ laterality with an associated increased risk of complex congenital heart disease [4]. The estimated prevalence of PCD in Europe is around 1 in 10 000 to 1 in 20 000 [5]. The international PCD cohort (iPCD) includes over 3800 PCD patients ranging in age from under 12 months to over 80 years, from Europe, Northern and Southern America, Australia and Western Asia [6]. Under-diagnosis of PCD is due to a lack of awareness among the general public and physicians in general, as well as a lack of diagnostic expertise in some countries [7]. Tools to help physicians identify patients needing testing (e.g. PICADAR) [8] and the European Respiratory Society (ERS) guidelines for diagnostic testing [9] aim to improve this. In contrast to cystic fibrosis (CF), a monogenic disease, PCD is caused by mutations in one of at least 45 identified genes for which there is no effective mutation-specific therapy; this is likely to be a long way off for most patients [10]. Thus, treatment aims to prevent and manage disease complications. Even then, the lack of an evidence base for supportive treatment in PCD means that treatment recommendatio

Primary ciliary dyskinesia, a rare disease causing bronchiectasis, lacks a sound evidence base for treatment. @beatpcd proposes 1) forming a PCD European clinical trial network to address this situation and 2) conducting n-of-1 trials to access medication. https://bit.ly/3j5blfM.