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6. [Unusual history of Wilson disease: a case report and review of the literature].

Author

Nehaj F, Kubašková M, Mokáň M, Sokol J, Nosáľ V, Zeleňák K, and Mokáň M

Subjects
Female, Hepatolenticular Degeneration physiopathology, Humans, Middle Aged, Hepatolenticular Degeneration diagnosis
Abstract

Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form. The WD usually manifests between 15 and 25 years of age. Hepatic form often occurs sooner, on the contrary, the neurological variant usually occur during the later stages. We present a case report of 45-years-old woman with atypical medical history of WD, in which the diagnostic process was very long and had interdisciplinary character.Key words: brain - copper - diagnostic - genetics - liver - panda - Wilson disease.

Published
2018

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