RT Journal Article
T1 [Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].
T2 Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.
A1 García Teresa, María Angeles
A1 Porto Abal, Raquel
A1 Rodríguez Torres, Silvia
A1 García Urabayen, Diego
A1 García Martínez, Silvia
A1 Trang, Ha
A1 Campos Barros, Angel
A1 Grupo Español de Trabajo del SHCC, 
A1 Llorente de la Fuente, Ana
A1 Hernández González, Arturo
A1 Bustinza Arriortua, Amaya
A1 de la Cruz Moreno, Jesús
A1 Pons Odena, Martí
A1 Ventura Faci, Purificación
A1 Rubio Ortega, Laura
A1 Pérez Ruiz, Estela
A1 Aguilar Fernández, Antonio
A1 Pérez Ocón, Amaya
A1 Osona, Borja
A1 Delgado Pecellin, Isabel
A1 Arroyo Carrera, Ignacio
A1 Sayas Catalán, Javier
A1 González Salas, Elvira
A1 de Vicente, Carlos Martin
K1 Asistencia sanitaria
K1 Congenital central hypoventilation syndrome
K1 Enfermedad rara
K1 Health care
K1 PHOX2B
K1 Rare disease
K1 Registro
K1 Registry
K1 Síndrome de hipoventilación central congénita
AB 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. To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. 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. 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.
YR 2016
FD 2016-07-01
LK https://hdl.handle.net/10668/24987
UL https://hdl.handle.net/10668/24987
LA es
DS RISalud
RD Apr 8, 2025