Abstract: Objective To diagnose and report the clinical and genetic features of an adult hepatolenticular degeneration mainly manifested by elevated AFP.Methods The clinical data of the patients were collected, the pathogenic mutations of the patients were detected by exome capture and sequencing, and the spatial structure of the protein before and after the mutation was compared and analyzed.Results The patient was a 49-year-old middle-aged female with clinical manifestations of elevated AFP and pathological manifestations of adult hepatolenticular degeneration with hepatic steatosis. Gene analysis results showed that ATP7B gene mutations c.3316G>A and c.2333G>T were compound heterozygotes, and protein structure prediction analysis showed that the mutation c.2333G>T affected the localization and transportation of ATP7B protein in cells, which was a pathogenic mutation.Conclusion Clinical and genetic analysis confirmed the diagnosis of a rare case of adult hepatolenticular degeneration with elevated AFP as the main manifestation. Penicillamine treatment is effective, expanding the clinical manifestations and differential diagnosis of the disease.

Key words: Adult hepatolenticular degeneration, Elevated AFP, ATP7B gene