Article
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
Journal of gastroenterology - 1 Jan 2021
García-Villarreal Luis, Hernández-Ortega Andrea, Sánchez-Monteagudo Ana, Peña-Quintana Luis, Ramírez-Lorenzo Teresa, Riaño Marta, Moreno-Pérez Raquel, Monescillo Alberto, González-Santana Daniel, Quiñones Ildefonso, Sánchez-Villegas Almudena, Olmo-Quintana Vicente, Garay-Sánchez Paloma, Espinós Carmen, González Jesús M, Tugores Antonio
Abstract excerpt
BACKGROUND: Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents its symptoms. As population genetics data predict a higher than initially expected prevalence, it was important to define the basic diagnostic tools to approach...
Topics
- Adolescent
- Adult
- Aged
- Biomarkers
- Ceruloplasmin
- Child
- Child, Preschool
- Copper
- Copper-Transporting ATPases
- Delayed Diagnosis