Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.
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 patient...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2017 |
| País: | España |
| Institución: | Fundació Sant Joan de Déu |
| Repositorio: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p9955 |
| Acceso en línea: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9955 |
| Access Level: | acceso abierto |
| Palabra clave: | Asistencia sanitaria Congenital central hypoventilation syndrome Enfermedad rara Health care PHOX2B Rare disease Registro Registry Síndrome de hipoventilación central congénita |
| id |
ES_52b5e7209701f5a22f2aa9943c5b31ea |
|---|---|
| oai_identifier_str |
oai:fsjd.fundanetsuite.com:p9955 |
| network_acronym_str |
ES |
| network_name_str |
España |
| repository_id_str |
|
| spelling |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.García Teresa MAPorto Abal RRodríguez Torres SGarcía Urabayen DGarcía Martínez STrang HCampos Barros AGrupo Español de Trabajo del SHCCLlorente de la Fuente AHernández González ABustinza Arriortua Ade la Cruz Moreno JPons Odena MVentura Faci PRubio Ortega LPérez Ruiz EAguilar Fernández APérez Ocón AOsona BDelgado Pecellin IArroyo Carrera ISayas Catalán JGonzález Salas Ede Vicente CMAsistencia sanitariaCongenital central hypoventilation syndromeEnfermedad raraHealth carePHOX2BRare diseaseRegistroRegistrySíndrome de hipoventilación central congénitaINTRODUCTION: 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.EDICIONES DOYMA S A2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9955ANALES DE PEDIATRIAISSN: 16954033ISSNe: 16959531reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuEspañolinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p99552026-05-27T12:37:41Z |
| dc.title.none.fl_str_mv |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| title |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| spellingShingle |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. García Teresa MA Asistencia sanitaria Congenital central hypoventilation syndrome Enfermedad rara Health care PHOX2B Rare disease Registro Registry Síndrome de hipoventilación central congénita |
| title_short |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| title_full |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| title_fullStr |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| title_full_unstemmed |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| title_sort |
Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015. |
| dc.creator.none.fl_str_mv |
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 de Vicente CM |
| author |
García Teresa MA |
| author_facet |
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 de Vicente CM |
| author_role |
author |
| author2 |
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 de Vicente CM |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Asistencia sanitaria Congenital central hypoventilation syndrome Enfermedad rara Health care PHOX2B Rare disease Registro Registry Síndrome de hipoventilación central congénita |
| topic |
Asistencia sanitaria Congenital central hypoventilation syndrome Enfermedad rara Health care PHOX2B Rare disease Registro Registry Síndrome de hipoventilación central congénita |
| description |
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. |
| publishDate |
2017 |
| dc.date.none.fl_str_mv |
2017 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.none.fl_str_mv |
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9955 |
| url |
https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9955 |
| dc.language.none.fl_str_mv |
Español |
| language_invalid_str_mv |
Español |
| dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
| eu_rights_str_mv |
openAccess |
| dc.publisher.none.fl_str_mv |
EDICIONES DOYMA S A |
| publisher.none.fl_str_mv |
EDICIONES DOYMA S A |
| dc.source.none.fl_str_mv |
ANALES DE PEDIATRIA ISSN: 16954033 ISSNe: 16959531 reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname:Fundació Sant Joan de Déu |
| instname_str |
Fundació Sant Joan de Déu |
| reponame_str |
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| collection |
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| repository.name.fl_str_mv |
|
| repository.mail.fl_str_mv |
|
| _version_ |
1869408067686236160 |
| score |
15,812429 |