RESUMEN
Tracheomalacia (TM) is characterized by tracheal collapse due to an intrinsic anomaly resulting in a lack of rigidity of the cartilaginous rings and/or the posterior membrane during expiration, coughing or crying. It may also be secondary to external compression or acquired during endobronchial diseases. TM is commonly associated with other syndromes or airway abnormalities. Tracheomalacia can be localized or diffused and if the main bronchi are involved, the term of tracheobronchomalacia (TBM) is used. The most common symptoms include expiratory stridor, barking cough and recurrent respiratory tract infections. If tracheal weakness is severe, Acute Life Threating Events (ALTE) or Brief Resolved Unexplained Event (BRUE) can occur. While mild forms usually do not require any treatment, severe TBM may require medical and/or surgical management. Amongst several possible treatments, including tracheostomy, noninvasive ventilation and airway stenting, the pexy surgical approach (posterior, anterior tracheopexy or aortopexy) is currently the favoured option.
La trachéomalacie (TM) est caractérisée par un collapsus trachéal plus ou moins important durant l'expiration, lors des efforts de toux ou des pleurs. Elle peut être due à une anomalie intrinsèque, par manque de rigidité des anneaux cartilagineux et/ou de la membrane postérieure. Elle peut aussi avoir une origine extrinsèque, soit secondaire à une compression externe, soit acquise dans le cadre de pathologies endo-bronchiques. Elle peut enfin être associée à certains syndromes ou malformations des voies respiratoires. La TM peut être localisée ou généralisée, et si les bronches principales sont atteintes, on parlera de trachéobronchomalacie (TBM). Les symptômes les plus courants sont : un stridor expiratoire, une toux aboyante, et des infections respiratoires récurrentes. Dans les cas les plus sévères, des événements menaçant la vie de l'enfant (Acute Life-Threatening Event «ALTE¼ ou Brief Resolved Unexplained Event «BRUE¼) peuvent survenir. Alors que les formes légères ne requièrent généralement pas de traitement, la TBM sévère peut nécessiter une prise en charge médicale et/ou chirurgicale. Parmi les divers choix thérapeutiques, incluant notamment la trachéostomie, la ventilation non invasive et les stents trachéaux, l'approche chirurgicale par pexie (aortopexie, trachéopexie postérieure ou antérieure) est actuellement l'option favorite.
Asunto(s)
Traqueobroncomalacia , Traqueomalacia , Bronquios , Niño , Tos , Humanos , Tráquea , Traqueobroncomalacia/diagnóstico , Traqueobroncomalacia/terapia , Traqueomalacia/diagnóstico , Traqueomalacia/terapiaRESUMEN
Diffuse alveolar hemorrhage (DAH) is a rare life-threatening condition in children. In this entity, the bleeding originates from the pulmonary microvasculature as a result of microvascular damage leading to blood leakage into the alveolar spaces. DAH can occur as an isolated medical entity or may be associated with other organ system injury or dysfunction. The classic triad of symptoms includes hemoptysis, anemia and diffuse pulmonary infiltrates. Hemoptysis is the usual presenting symptom but is not constant. A variety of diseases is associated with the development of DAH. Current classification organize the etiologies of diffuse alveolar hemorrhage based on the presence of severe immune disorders (such as systemic vasculitis and collagenosis) or non-immunodeficiency disorders (with an identified cardiac or non-cardiac origin, or idiopathic). The five cases of DAH presented in this study were all diagnosed in full-term infants, four males and one female, with normal neonatal adaptation and without family history of notable diseases. In all cases the diagnosis was made between the age of three and eighteen weeks-old. Moreover, all five patients, at the time of diagnosis, presented with hemoptysis, mild or severe dyspnea, anemia and abnormal chest X-rays. Consequently, the diagnosis of DAH was strongly suspected and, eventually, confirmed by bronchoscopy. Additional laboratory tests, as well as selected serologic and radiographic studies were performed in order to identify a specific etiology. The final diagnoses reflect a variety of causes: infections, idiopathic pulmonary hemosiderosis, accidental suffocation and Heiner syndrome. Treatment included oral corticosteroids except from one patient that received antimicrobial therapy.
RESUMEN
Cystic fibrosis is a genetic disorder responsible for the production of a defective transmembrane protein. In recent years, new protein modulators have been developed. They aim to treat the underlying cause of the disease. The results on the biomarkers of the function of the CFTR protein and on the clinical outcomes are very encouraging. However, there is an individual heterogeneity in the response to modulators within a same genotype. Furthermore, clinical trials focus on the most common mutations in the CFTR gene, in particular DF508. Intestinal organoids, a new model of ex vivo study, could offer a quick approach to increase access to effective treatment for all patients with cystic fibrosis regardless of their CFTR genotype. Organoids could enable personalized treatment of cystic fibrosis.
La mucoviscidose est une maladie génétique responsable de la production d'une protéine transmembranaire défectueuse. Au cours des dernières années, se sont développés des traitements modulateurs ciblant les défauts spécifiques de la protéine causés par les mutations du gène CFTR. Les résultats sur les biomarqueurs de la fonction de la protéine CFTR et sur les paramètres cliniques sont très encourageants. Cependant, une hétérogénéité individuelle dans la réponse aux modulateurs est observée. De plus, les essais cliniques se focalisent sur les mutations les plus fréquentes du gène, en particulier DF508. Les organoïdes intestinaux, un nouveau modèle d'étude ex vivo, pourraient offrir une approche rapide pour majorer l'accès à un traitement efficace à tous les patients, quel que soit leur génotype CFTR. Les tests in vitro sur les organoïdes rendent possible l'évolution vers une médecine personnalisée pour les patients atteints de mucoviscidose.
Asunto(s)
Fibrosis Quística , Medicina de Precisión , Fibrosis Quística/tratamiento farmacológico , Regulador de Conductancia de Transmembrana de Fibrosis Quística , Genotipo , Humanos , Mutación , OrganoidesRESUMEN
Cystic fibrosis has in Belgium a prevalence of 1/2.850 births, with a median age at diagnosis of 7 months according to the latest data from the Belgian registry of 2015. In our country, the diagnosis of cystic fibrosis is always based on signs and symptoms of the disease. However, because the scientific literature has largely demonstrated the benefits of neonatal screening for cystic fibrosis, it will be implemented in Belgium before the end of 2019. The screening programme should be framed by strict quality criteria in order to obtain the best performance with the least possible inconvenience.
La mucoviscidose a une prévalence en Belgique de 1/2.850 naissances, avec un âge médian au diagnostic de 7 mois selon les dernières données du registre belge de 2015. Dans notre pays, le diagnostic de mucoviscidose est majoritairement basé sur les signes et les symptômes de la maladie. Toutefois, la littérature scientifique ayant largement démontré les avantages d'un dépistage néonatal de la mucoviscidose, celui-ci sera implémenté en Belgique avant la fin 2019. Il convient que le programme de dépistage soit encadré de critères de qualité stricts afin d'obtenir la meilleure performance, avec le moins d'inconvénients possibles.
Asunto(s)
Fibrosis Quística/diagnóstico , Tamizaje Neonatal , Bélgica , Política de Salud , Humanos , Recién NacidoRESUMEN
In very low birth weight (VLBW) infants careful growth and nutritional supervision are necessary in order to reduce the incidence of persistent growth retardation after 2 to 3 years of age. Recently, post-discharge formulas with higher protein, energy and mineral content has been developed with the aim to promote catch up growth and mineral accretion during the first months of life. Based upon the most recent nutritional and growth data, the authors propose guidelines for the nutrition and growth follow-up of VLBW infants after discharge from the neonatal unit.