Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease

Wilson ’s disease is an autosomal recessive disorder that impairs copper homeostasis and is caused by homozygous or compound heterozygous mutations in ATP7B, which encodes a copper-transporting P-type ATPase. Patients have variable clinical manifestations and laboratory test results, resulting in diagnos tic dilemmas. We aimed to identify factors associated with symptoms and features of Wilson’s disease from a large cohort, over 15 years.
Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research