Enfermedad de Wilson en Costa Rica: un enfoque genético y epidemiológico

Abstract

Wilson's disease is an autosomal recessive disorder affecting copper metabolism, caused by mutations in the ATP7B gene. These mutations prevent the correct absorption of copper, accumulating mainly in the liver and other organs such as the brain and eyes. Costa Rica has one of the highest rates of this disease, especially in the provinces of San José and Puntarenas, highlighting the importance of genetic studies. Symptoms include liver, neurological, psychiatric, and ophthalmological conditions. Diagnosis can be made through clinical history and the Leipzig scale, but the standard is the sequencing of the ATP7B gene. Treatment includes chelators such as penicillamine, zinc salts, and a low-copper diet, with early diagnosis crucial for successful treatment.