Abstract
Wilson-Konovalov disease is a severe progressive life-threatening hereditary autosomal recessive disease from the group of metabolic disorders with multisystem manifestations. Laboratory diagnostics is the basis for early diagnosis and timely initiation of treatment, monitoring the course of the disease, selecting and evaluating the effectiveness of therapy, minimizing its side effects. Modern approaches to the diagnosis and monitoring of Wilson’s disease using laboratory research are presented in the article. Examples of phenotypic diagnosis and monitoring are demonstrated. When laboratory tests are used correctly, it is possible to approach personalized treatment of patients, increase the duration and improve their quality of life.
Published Version
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