Wilson's Disease in Oman: A National Cohort Study of Clinical Spectrum, Diagnostic Delay, and Long-Term Outcomes.

ABSTRACT: Background/Objectives: Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism that results in hepatic, neurological, and psychiatric manifestations. Despite being described globally, data from the Middle East remains limited. This study presents the first comprehensive national cohort analysis of WD in Oman, examining clinical features, diagnostic challenges, treatment patterns, and long-term outcomes. Methods: A retrospective cohort study was conducted on 36 Omani patients diagnosed with WD between 2013 and 2020 at Sultan Qaboos University Hospital using AASLD diagnostic criteria. Clinical presentation, biochemical parameters, treatment regimens, and progression-free survival were analyzed. Results: The median age at diagnosis was 14.5 years, with a slight femal

SUBMITTER: Al-Busafi SA 

PROVIDER: S-EPMC12384659 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature