[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].
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García Teresa María Angeles, Porto Abal Raquel, Rodríguez Torres Silvia, García Urabayen Diego, García Martínez Silvia, Trang Ha, Campos Barros Angel, Grupo Español de Trabajo del SHCC, Llorente de la Fuente Ana, Hernández González Arturo, Bustinza Arriortua Amaya, de la Cruz Moreno Jesús, Pons Odena Martí, Ventura Faci Purificación, Rubio Ortega Laura, Pérez Ruiz Estela, Aguilar Fernández Antonio, Pérez Ocón Amaya, Osona Borja, Delgado Pecellin Isabel, Arroyo Carrera Ignacio, Sayas Catalán Javier, González Salas Elvira, de Vicente Carlos Martin
Аннотация
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.