Internal medicine and rare diseases.Child-adult transition
DOI:
https://doi.org/10.3989/arbor.2018.789n3002Keywords:
rare diseases, inherited metabolic diseases, inborn errors of metabolism, child-adult transition in inborn errors of metabolismAbstract
Most rare diseases (RD) are genetically based, occur with very different symptoms and may cause a different degree of disability, especially inborn errors of metabolism (IEM). The clinical transition process of a patient with a RD reaching adulthood aims to ensure uninterrupted, coordinated and psychologically-appropriate health care through multidisciplinary expert units (EU). The specialist in Internal Medicine has a central role, along with Nutrition and Dietetics, a specialized ECM laboratory, and other specialists (Neurology, Clinical Genetics, Pharmacy, Ophthalmology, Obstetrics, Psychiatry, Nursing, Social Work, with the support of pediatricians experienced in ECM). EU should organize the overall care, develop clinical guidelines for diagnosis, follow-up and treatment, adapt Pharmacy services, create patient registers, establish relationships with patients’ associations, develop a scientific training program, establish international partnerships, facilitate collaboration with the Pharmaceutical Industry and have its own research activity.
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<b>Disposiciones oficiales</b>
Orden SCO/227/2007 de 24 de enero, por la que se aprueba y publica el programa formativo de la especialidad de medicina interna. Boletín Oficial del Estado nº 33 de 7 de febrero de 2007, pp. 5755- 5759. Disponible en: https://www.boe. es/boe/dias/2007/02/07/pdfs/A05755- 05759.pdf
<b>Recursos en línea</b>
CatSalut. Servei Català de la Salut. Instrucció 12/2014, de 15 d'octubre de 2014. Desarrollo e implantación del modelo de atención a las enfermedades minoritarias (EM) en Catalu-a. Ordenación de las unidades expertas clínicas para EM o grupos temáticos de EM. [En línea]. Disponible en: http://catsalut.gencat. cat/web/.content/minisite/catsalut/ proveidors_professionals/normatives_instruccions/any_2014/instruccio_12_2014/instruccio_12_2014.pdf
Sociedad Española de Medicina Interna (SEMI). [En línea]. Disponible en: http:// www.fesemi.org/
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