Diagnostic difficulties of hepatolenticular degeneration

Diagnostic difficulties of hepatolenticular degeneration

E.V. Ovchinnikova^1–3, M.M. Garbuz¹, A.A. Ovchinnikova¹, N.A. Schneider^2,4, V.V. Kumeyko^1,5

¹Far Eastern Federal University, Vladivostok

²V.M. Bekhterev National Medical Research Center for Psychiatry and Neurology, St. Petersburg

³Primorsky Regional Clinical Hospital No. 1, Vladivostok

⁴Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, Krasnoyarsk

⁵A.V. Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch of Russian Academy of Sciences, Vladivostok

The article presents the data on diagnostic methods for the hepatolenticular degeneration (HLD) (Wilson’s desease) over a 130-year study period based on studies published from 2000 to 2023. The following databases were used for parameters search: eLibrary, Google Scholar, PubMed, Springer, Scopus, Elsevier, Oxford Press, Clinical Case, Cochrane, Science Direct. 50 studies performed in Russian Federation and abroad were analyzed, out of which the role of clinical, instrumental and laboratory markers in the pathology diagnosis was determined. Special attention was paid to molecular genetic methods and their place among other criteria for the HLD diagnosis. Modern approaches aimed at symptom-directed disease assessment were clarified by converting information into digital values for creating HLD databases. The article also justified the reasons limiting the statistical symptom-directed disease assessment to solve the clinical diagnostic issues at the early stages of disease development for further timely prescribing of therapeutic measures. Adding that, the necessity concerning careful selection of clinical material and genetic research methods during clinical and genetic comparisons was either substantiated.

Keywords: hepatolenticular degeneration, clinical polymorphism, diagnosis, molecular genetic research.

For citation: Ovchinnikova E.V., Garbuz M.M., Ovchinnikova A.A., Schneider N.A., Kumeyko V.V. Diagnostic difficulties of hepatolenticular degeneration. RMJ. 2024;4:42–45.