Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015

Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un Registro online de pacientes para optimizar su cuidado. Objetivo Conocer las características y la evolución de los pacientes españoles con SHCC y detectar áreas de mejora. Materiales y método Se analizaron los datos actualizados en diciembre del 2015 de los pacientes españoles del Registro europeo. Resultados Se registró a 38 pacientes, nacidos entre 1987 y 2013, procedentes de 18 hospitales. El 34, 2% eran mayores de 18 años. Han fallecido 3 pacientes. Aportaban estudio del gen PHOX2B 37 (97, 3%), 32 (86, 5%) con mutación. Los genotipos 20/25, 20/26 y 20/27 representaron el 84, 3% de las mutaciones. Las disautonomías fueron más frecuentes y graves en portadores de genotipos con mayores expansiones de polialaninas. El 47% de pacientes asociaba alteraciones oculares, el 16% Hirschsprung, el 13% hipoglucemias y el 5% tumores. Treinta pacientes (79%) debutaron en el periodo neonatal y 8 (21%) posteriormente (inicio/diagnóstico tardío). Ocho niños (21%) recibieron inicialmente ventilación domiciliaria con mascarilla; 5 eran lactantes con comienzo neonatal, 2 de ellos precisaron cambio a traqueostomía tras presentar parada cardiorrespiratoria; ambos tenían mutaciones graves. Han sido decanulados y transferidos a mascarilla el 34, 3% de los pacientes (edad media: 13, 7 años). El 29, 4% de los niños escolarizados precisaron refuerzo educativo. Conclusión La implementación del Registro en España de pacientes con SHCC ha permitido identificar aspectos relevantes para optimizar sus cuidados, tales como la importancia del estudio genético para el diagnóstico y la estimación de gravedad, la frecuencia elevada de alteraciones oculares y de necesidad de refuerzo educativo, y algunas limitaciones de las técnicas ventilatorias. Introduction Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. Aim To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. Materials and method An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. Results The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. Conclusion The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques

The effect of immediate postoperative Boussignac CPAP on adverse pulmonary events after thoracic surgery: A multicentre, randomised controlled trial

Abstract Background: The effectiveness of prophylactic continuous positive pressure ventilation (CPAP) after thoracic surgery is not clearly established. Objective: The aim of this study was to assess the effectiveness of CPAP immediately after lung resection either by thoracotomy or thoracoscopy in preventing atelectasis and pneumonia. Design: A multicentre, randomised, controlled, open-label trial. Settings: Four large University hospitals at Madrid (Spain) from March 2014 to December 2016. Patients: Immunocompetent patients scheduled for lung resection, without previous diagnosis of sleep-apnoea syndrome or severe bullous emphysema. Four hundred and sixty-four patients were assessed, 426 were randomised and 422 were finally analysed. Intervention: Six hours of continuous CPAP through a Boussignac system versus standard care. Main outcome measures: Primary outcome: incidence of the composite endpoint 'atelectasis + pneumonia'. Secondary outcome: incidence of the composite endpoint 'persistent air leak + pneumothorax'. Results: The primary outcome occurred in 35 patients (17%) of the CPAP group and in 58 (27%) of the control group [adjusted relative risk (ARR) 0.53, 95% CI 0.30 to 0.93]. The secondary outcome occurred in 33 patients (16%) of the CPAP group and in 29 (14%) of the control group [ARR 0.92, 95% CI 0.51 to 1.65]. Conclusion: Prophylactic CPAP decreased the incidence of the composite endpoint 'postoperative atelectasis + pneumonia' without increasing the incidence of the endpoint 'postoperative persistent air leaks + pneumothorax'.Instituto de Salud Carlos IIIUnión EuropeaNEUMOMADRID (Madrid Pneumological society).Depto. de Farmacología y ToxicologíaFac. de MedicinaTRUEpu