Jordi Pérez-López1, Leticia Ceberio-Hualde2, José Salvador García Morillo3, Josep M Grau-Junyent4, Álvaro Hermida Ameijeiras5, Mónica López-Rodríguez6, Montserrat Morales-Conejo7, Juan José Nava Mateos8, Luis José Aldámiz Echevarri Azuara9, Jaume Campistol10, M Luz Couce5, María Teresa García-Silva11, Luis González Gutiérrez-Solana12, Mireia Del Toro13. 1. Errores Congénitos del Metabolismo del Adulto, Unidad de Enfermedades Minoritarias, Hospital Universitario Vall d'Hebron, CSUR de Errores Congénitos del Metabolismo, Grupo de Trabajo de Enfermedades Minoritarias de la SEMI, Barcelona, España. Electronic address: jordperez@vhebron.net. 2. Servicio de Medicina Interna, Hospital Universitario de Cruces, CSUR de Errores Congénitos del Metabolismo, Baracaldo, Bizkaia, España. 3. Unidad de Enfermedades Minoritarias y Unidad Clínica de Atención Médica Integral (UCAMI), Servicio de Medicina Interna, Hospital Virgen del Rocío, Sevilla, España. 4. Servicio de Medicina Interna, Grupo de Enfermedades Minoritarias, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, España. 5. Unidad de Enfermedades Metabólicas Congénitas, Servicio de Medicina Interna, Hospital Clínico Universitario de Santiago, CSUR de Errores Congénitos del Metabolismo, Santiago de Compostela, A Coruña, España. 6. Servicio de Medicina Interna, Hospital Central de la Cruz Roja, Grupo de Trabajo de Enfermedades Minoritarias de la SEMI, Madrid, España. 7. Servicio de Medicina Interna, Hospital Universitario 12 de Octubre, CSUR de Errores Congénitos del Metabolismo, Madrid, España. 8. Servicio de Medicina Interna, Hospital Universitario Ramón y Cajal, CSUR de Errores Congénitos del Metabolismo, Madrid, España. 9. Unidad de Trastornos Congénitos del Metabolismo, Hospital Universitario de Cruces, CSUR de Errores Congénitos del Metabolismo, Barakaldo, Bizkaia, España. 10. Servicio de Neurología, Hospital Sant Joan de Déu, CSUR de Errores Congénitos del Metabolismo, Barcelona, España. 11. Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias, Unidad Pediátrica de Enfermedades Raras, Hospital Universitario 12 de Octubre, CSUR de Errores Congénitos del Metabolismo, Madrid, España. 12. Servicio de Neuropediatría, Hospital Niño Jesús, Madrid, España. 13. Servicio de Neuropediatría, Hospital Universitario Vall d'Hebron, CSUR de Errores Congénitos del Metabolismo, Barcelona, España.
Abstract
BACKGROUND AND OBJECTIVE: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare. METHODOLOGY: After carrying out a bibliographic review of the subject, the authors, beginning with their own experience, produced an initial document which was subjected to successive debates until the final document was obtained. The consensus recommendation was decided by the majority in case of criterion discrepancy. RESULTS: A series of recommendations are presented for the best clinical management of the transitions of care of patients with IEM from the paediatric to adult care setting in order to achieve the best results in this process given the special characteristics of this patient subgroup and the main difficulties entailed in the transition process. CONCLUSIONS: The role of the internal medicine doctor in this transition process and correct interrelation with the paediatric and social setting is stressed. Furthermore, actions and attitudes are suggested to improve the quality of said transition.
BACKGROUND AND OBJECTIVE: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare. METHODOLOGY: After carrying out a bibliographic review of the subject, the authors, beginning with their own experience, produced an initial document which was subjected to successive debates until the final document was obtained. The consensus recommendation was decided by the majority in case of criterion discrepancy. RESULTS: A series of recommendations are presented for the best clinical management of the transitions of care of patients with IEM from the paediatric to adult care setting in order to achieve the best results in this process given the special characteristics of this patient subgroup and the main difficulties entailed in the transition process. CONCLUSIONS: The role of the internal medicine doctor in this transition process and correct interrelation with the paediatric and social setting is stressed. Furthermore, actions and attitudes are suggested to improve the quality of said transition.
Authors: Luis González-Gutiérrez-Solana; Encarnación Guillén-Navarro; Mireia Del Toro; Jaime Dalmau; Antonio González-Meneses; María L Couce Journal: Medicine (Baltimore) Date: 2018-07 Impact factor: 1.889