Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

ABSTRACT:

Background and aims

Wilson's disease (WD) is a disorder of copper metabolism caused by a mutation in the ATP7B gene. We aimed to comprehensively evaluate the clinical and genetic profiles of patients with WD.

Methods

This was a single-center retrospective study conducted at AIG Hospitals, Hyderabad, India. Patients diagnosed and treated for WD both in outpatient and inpatient settings from June 2020 to April 2024 were included.

Results

A total of 156 patients (women being 33.3%) with a median age of 19 years (2-57) were included from June 2020 to April 2024. Forty eight percent (n = 75) patients were of pediatric age <19 years. Clinical presentation with liver disease in the pediatric population included 26.7% with acute liver failure and 20% as acute-on-chroni

SUBMITTER: Kulkarni AV 

PROVIDER: S-EPMC12320151 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature