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CLINICAL CASE
The clinical course of Wilson's disease and treatment adherence
1 Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia
2 Petrovsky National Research Centre of Surgery, Moscow, Russia
3 Lomonosov Moscow State University, Moscow, Russia
Correspondence should be addressed: Inna G. Tuluzanovskaya
Elanskogo, 2, str. 2, 119435, Moscow, Russia; ur.liam@77t_anni
Author contribution: Tuluzanovskaya IG — patient supervision, literature analysis, article authoring; Balashova MS — literature analysis, article editing; Senina OS, Sizyakova OM, Leisan kyzy Huseynova G, Mamadshoeva NM — data processing, literature analysis; Rozina TP — patient supervision, article editing; Zhuchenko NA — article editing.
Compliance with ethical standards: all participants or their legal representatives provided written informed consent to participate in the study.
Wilson’s disease is a rare autosomal recessive disorder (prevalence 1 : 30,000) caused by pathogenic variants in the ATP7B gene (OMIM 277900). Early diagnosis and pathogenetic therapy enable stable remission. Poor treatment adherence is the key factor adversely affecting the prognosis. This family case study has demonstrated that inadequate attitude towards therapy contributes to the progression of organ damage and increases the risk of disability and mortality. Clinical observation confirms a direct link between compliance with the treatment regimen and clinical outcomes.
Keywords: liver cirrhosis, ATP7B gene, Wilson's disease, copper, pathogenetic therapy, treatment adherence