Wilson's disease (WD), which results from the defective ATP7B protein product, is characterized by impaired copper metabolism and its clinical consequences vary from an asymptomatic state to fulminant hepatic failure, chronic liver disease with or without cirrhosis, neurological, and psychiatric manifestations. A high grade of suspicion is warranted to not miss cases of WD, especially less florid cases with only mild elevation of transaminases, or isolated neuropsychiatric involvement. Screening in first and second relatives of index cases is mandatory, and treatment must commence upon establishment of diagnosis. Treatment strategies include chelators such as D-penicillamine and trientine, while zinc salts act as inductors of methallothioneins, which favor a negative copper balance and a reduction of free plasmatic copper. As an orphan disease, research is lacking in this field, especially regarding therapeutic strategies which are associated with better patient compliance and which could eventually also reverse established injury.

Wilson's disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in the liver and brain. Mutations in the ATP7B gene on chromosome 13 cause Wilson's disease. If left untreated it will cause liver failure, neurological damage, and will be life threatening. It is considered a rare disease afflicting approximately 1 in 30,000 persons worldwide, although this rate is similar in the different countries some places show higher incidence rates. Since Costa Rica reports the highest number of cases per population, essential public health initiatives that promote wellbeing, prevent disease complications, and prolong life among the affected population have been carried out during the last decades. The most recent lead in this matter is the conformation of the Costa Rica's National Alliance for Wilson's disease whose main objective is to provide practical, operational, timely and relevant guidance to patients, families, and healthcare professionals in the region for early diagnosis and treatment. The development and implementation of the National Alliance for Wilson's disease activities is crucial because it will reaffirm that early intervention and appropriate treatment, will reduce if not eliminate the burden of Wilson's disease.

Introduction The prevalence of Wilson disease (WD) in Costa Rica is among the highest reported in the world, 4.9:100 000. Previous investigators have also described a burden of autosomal recessive conditions in this country. Genetic testing for WD began in 2010 as a strategy for earlier detection due to the country's high prevalence. Here we describe what we have learned about the genotype and phenotype of the Costa Rican pediatric population with WD. Methods We completed a retrospective review of medical records from pediatric individuals (<18 years of age) with molecular testing for ATP7B between 2010 and 2015. We documented phenotype and genotype for cases with WD as defined by the international scoring system. Results Thirty‐four WD cases from 28 families were included, 15 female and 19 male patients. The most frequent pathogenic variant in ATP7B was NM_000053:c.3809A>G, p.Asn1270Ser, with 58.8% of affected individuals homozygous for this variant. Age of diagnosis ranged from 1 to 17 years, with an average of 8.8 ± 3.6 years. All individuals who presented with acute liver failure (n = 6) were homozygous for the p.Asn1270Ser variant (Chi‐squared, P < .05). Discussion Molecular testing has facilitated the detection of presymptomatic patients with WD in Costa Rica. We hope that ongoing efforts in the delivery of clinical services lead to optimized molecular screening for WD and other genetic conditions in Costa Rica.

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Introducción: Costa Rica es un país con un sistema de salud pública que ha permitido detectar oportunamente a los pacientes con hepatitis C, y ofrecer un tratamiento con base en antivirales de acción directa (AAD) de última generación. No obstante, no se han publicado estudios que evalúen la respuesta de la población costarricense a estos fármacos.Objetivo: describir la efectividad clínica del tratamiento con AAD en una cohorte tratada en la Caja Costarricense de Seguro Social (CCSS).Materiales y métodos: estudio retrospectivo de los expedientes clínicos de los pacientes tratados con sofosbuvir / ledipasvir, sofosbuvir / velpatasvir y ombitasvir / paritaprevir / ritonavir / dasabuvir, en tres hospitales nacionales para adultos de la CCSS, en 2017 - 2018. Se recolectaron variables epidemiológicas, clínicas y analíticas, y se compararon los resultados pre y postintervención.Resultados: se reclutaron 139 pacientes; 22 fueron excluidos porque no cumplían los criterios. El análisis se realizó con 117 pacientes, de los cuales 101 tenían viremia documentada para determinación de la respuesta virológica sostenida (RVS). La mayoría de los pacientes fue costarricense, nacida en 1945 - 1965, con factores de riesgo para hepatitis C no documentados, sin cirrosis e infectada por el genotipo 1b. La RVS general de la población estudiada fue del 98 %, sin notarse diferencia significativa entre pacientes cirróticos (94 %) y no cirróticos (100 %).Hubo una reducción significativa (p < 0,01) en: el índice de aspartato-aminotransferasa: número de plaquetas (APRI), el puntaje del Modelo para Enfermedad Hepática Terminal (MELD), la alaninoaminotransferase (ALT) y la bilirrubina total, para los pacientes tratados con AAD. Conclusión: los antivirales de acción directa fueron efectivos en la población tratada en Costa Rica, con respuesta viral sostenida similar a aquella reportada en otros ensayos de vida real.