Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.
Por:
García Teresa MA, Porto Abal R, Rodríguez Torres S, García Urabayen D, García Martínez S, Trang H, Campos Barros A, Grupo Español de Trabajo del SHCC, Llorente de la Fuente A, Hernández González A, Bustinza Arriortua A, de la Cruz Moreno J, Pons-Odena M, Ventura Faci P, Rubio Ortega L, Pérez Ruiz E, Aguilar Fernández A, Pérez Ocón A, Osona B, Delgado Pecellin I, Arroyo Carrera I, Sayas Catalán J, González Salas E and de Vicente CM
Publicada:
1 may 2017
Ahead of Print:
1 jul 2016
Categoría:
Pediatrics, perinatology and child health
Resumen:
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.
Filiaciones:
García Teresa MA:
Cuidados Intensivos Pediátricos, Hospital Niño Jesús, Madrid, España.
Porto Abal R:
Pediatría, CS Villalva Pueblo, Madrid, España
Rodríguez Torres S:
Neumología Pediátrica, Hospital Sant Joan de Déu, Barcelona, Barcelona, España
García Urabayen D:
Cuidados Intensivos Pediátricos, Hospital de Cruces, Bilbao, Vizcaya, España
García Martínez S:
Hospitalización Domiciliaria Pediátrica, Hospital de la Arrixaca, Murcia, España
Trang H:
Centro de Referencia Francés de Hipoventilación Central, Hospital Robert Debré, Consorcio Europeo del Síndrome de Hipoventilación Central, París, Francia
Campos Barros A:
Instituto de Genética Médica y Molecular, IdiPAz, Hospital Universitario La Paz, CIBER de Enfermedades Raras, ISCIII, Madrid, España
Llorente de la Fuente A:
Cuidados Intensivos Pediátricos, Hospital Doce de Octubre, Madrid, España
Hernández González A:
Cuidados Intensivos Pediátricos, Hospital Puerta del Mar, Cádiz, España
Bustinza Arriortua A:
Cuidados Intensivos Pediátricos, Hospital Gregorio Marañón, Madrid, España
de la Cruz Moreno J:
Pediatría, Hospital Universitario Materno Infantil, Jaén, España
Pons-Odena M:
Cuidados Intensivos Pediátricos, Hospital Sant Joan de Déu, Barcelona, España
Ventura Faci P:
Neonatología, Hospital Lozano Blesa, Zaragoza, España
Rubio Ortega L:
Hospitalización a Domicilio Pediátrica, Hospital General Universitario, Alicante, España
Pérez Ruiz E:
Neumología Infantil, Hospital Carlos Haya, Málaga, España
Aguilar Fernández A:
Neumología Pediátrica, Hospital Materno Infantil, Las Palmas, España
Pérez Ocón A:
Cuidados Intensivos Pediátricos, Complejo Hospitalario de Navarra, Pamplona, Navarra, España
Osona B:
Neumología Pediátrica, Hospital Son Espases, Palma de Mallorca, Islas Baleares, España
Delgado Pecellin I:
Neumología Pediátrica, Hospital Virgen del Rocío, Sevilla, España
Arroyo Carrera I:
Neonatología, Hospital San Pedro de Alcántara, Cáceres, España
Sayas Catalán J:
Neumología, Hospital Doce de Octubre, Madrid, España
González Salas E:
Cuidados Intensivos Pediátricos, Hospital Universitario de Salamanca, Salamanca, España
de Vicente CM:
Neumología Pediátrica, Hospital Miguel Servet, Zaragoza, España
Open Access
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