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| Title: | Genetic map of Wilson disease in Spain – A great tool to improve diagnosis and screening | Authors: | Alonso Castellano, Pablo Mariño, Zoe Tugores, Antonio Olveira, Antonio Ampuero, Javier Berenguer, Marina Fernández-Ramos, José Ramón Moreno-Planas, José María Lázaro-Ríos, María Masnou, Helena González-Diéguez, María Luisa Pinazo-Bandera, José María Molina-Pérez, Esther Hernández-Guerra, Manuel Romero-Gutiérrez, Marta Fernández-Álvarez, Paula Muñoz, Carolina Lorente, Sara Cachero, Alba Delgado-Blanco, Manuel Vargas, Víctor Gómez-Camarero, Judith Cuenca, Francisca Ibáñez-Samaniego, Luis Fernández-Bermejo, Miguel Álvarez-Suárez, Beatriz Iruzubieta, Paula Arencibia-Almeida, Ana García-Villarreal, Luis |
UNESCO Clasification: | 32 Ciencias médicas 320601 Digestión 320102 Genética clínica |
Keywords: | Atp7B Gene Genetic Screening Misdiagnosis Rare Disease |
Issue Date: | 2025 | Journal: | Revista Espanola de Enfermedades Digestivas | Abstract: | Wilson disease (WD) is a rare genetic disease secondary to mutations in the ATP7B gene, which encodes a protein involved in copper excretion. There are more than 1000 different mutations among patients and diagnosis is sometimes difficult. Without treatment, WD leads to death but there are therapies that are so effective and offer a normal life to patients, if started early. Every population shows different mutations, so a genetic map of every country is very important for patients and physicians, to reach early diagnosis and therapy with the best prognosis for patients. | URI: | https://accedacris.ulpgc.es/handle/10553/139844 | ISSN: | 1130-0108 | DOI: | 10.17235/reed.2025.11005/2024 | Source: | Revista Espanola de Enfermedades Digestivas[ISSN 1130-0108],v. 117 (5), p. 249-255, (Enero 2025) |
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