부산대학교 도서관

Introduction. Wilson disease (WD), is a rare metabolic disease, associated with phenomenal mutational polymorphism and high phenotypic variety. OBJECTIVE: To assess demographic distribution, epidemiological characteristics, clinical presentations, and genetic features of Moldovan patients with WD. Methods. It was conducted a retrospective study on 108 patients suspected of WD, between 2006 and 2023. The Ferenci Scoring System was used to specify the diagnosis. The age and the symptoms at onset were used as the main phenotypic parameters. In 93 cases the genetic test was performed by the Sanger sequencing method of the exons with a high and moderate frequency of mutations, only 12.9% of patients were done sequencing of the entire gene. Results. Out of 108 patients, 57.4% (62/108) were men, and the female-male ratio was 1:1.3. The mean age was 16 years (range 3-63 years). The average duration of the diagnostic period was 22.5 months, varying between 1-36 months. In 10.8% the diagnosis was established more than 3 years after the onset of the disease. In 40.7% of cases, WD was suspected before the age of 18 years. In 31.6% of patients, the onset was with a hepatic presentation, the type of lesion varying from chronic hepatitis to acute hepatic failure. Hepatic onset was more common in females (45.8%, p<0.01) and neurologic in males (61.5%, p<0.05). Mutations were detected in 61.35% of genetic tests performed, of which 70.2% are pathogenic variants. In 62.1% of cases, p.H1069Q was detected, of which 36.1% were homozygous recessive, 41.7% had associations with other variants (pathogenic, benign, or uncertain), and in 22.2% the second mutation is unknown. This mutation is associated with liver damage in 52.8% of cases, which was diagnosed at the onset or during the natural evolution of WD. Conclusions. 36% of the patients with WD are homozygous, and in 52% of these patients' liver damage is established. establishing the correlation between the genotype-phenotype of the patient with WD is necessary for the personalized treatment of these patients. [ABSTRACT FROM AUTHOR]