eNeurologicalSci
A comprehensive literature review of Wilson Disease in Africa
Door Tadesse TM, Wakjira OG, Geta G en 3 anderen.
Inhoud in het Engels
Abstract
Background
Wilson Disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, which disrupts copper metabolism and leads to toxic accumulation in the liver and brain. Globally, its incidence is estimated at 1 in 30,000, though consanguinity can increase prevalence in certain regions. In Africa, WD remains underdiagnosed due to limited diagnostic capacity and awareness, with most reported cases concentrated in North Africa.
Methods
This narrative review synthesizes literature on WD epidemiology, diagnosis, and genetics in Africa, focusing on data from countries with published studies such as Morocco and Egypt. Information on clinical presentation, diagnostic criteria (Leipzig scoring, Kayser-Fleischer rings), and genetic profiles was compiled from peer-reviewed articles and case reports.