RT Journal Article
T1 [Genetic protocol in primary care for rare diseases: Wolfram syndrome as a prototype].
T2 Protocolo genético en Atención Primaria para enfermedades raras: el síndrome de Wolfram como prototipo.
A1 Esteban-Bueno, Gema
A1 Díaz-Anadón, Lucas Ramón
A1 Rodríguez González, Antonio
A1 Navarro Cabrero, Miguel
A1 Berenguel Hernández, Aída María
K1 Atención Primaria
K1 Consejo genético
K1 DIDMOAD
K1 Enfermedades raras
K1 Genetic counseling
K1 Genetics
K1 Genética
K1 Primary Care
K1 Rare diseases
K1 Síndrome de Wolfram
K1 Wolfram syndrome
AB Rare diseases, despite their individual low frequency, affect 7% of the population all combined. Consequently, every primary care practitioner (PCP) will have several of these patients under his care. 80% of rare diseases are genetically determined, which makes genetic counseling fundamental in these cases. The follow-up of patients with Wolfram syndrome (WS) can be used to design a protocol to support these patients, with the participation of researchers and healthcare professionals specialized in WS, the patients themselves and their familial environment. This protocol can be suitable for the diagnosis and management of other diseases as well. The main steps of every genetic clinical procedure are developed in this article, emphasizing the role of PCP in supporting patients and their families and in transmitting genetic information in a comprehensible manner.
YR 2022
FD 2022-03-16
LK http://hdl.handle.net/10668/21974
UL http://hdl.handle.net/10668/21974
LA es
DS RISalud
RD Apr 14, 2025