Wilson's Disease Manifestation in Late Adulthood: A Case Report and Literature Review.

Autor: Tazin F; Family Medicine, East Liverpool City Hospital, East Liverpool, USA., Kumar H; Medicine, Dow University of Health Sciences, Karachi, PAK., Orlang V; Family Medicine, East Liverpool City Hospital, East Liverpool, USA.
Jazyk: angličtina
Zdroj: Cureus [Cureus] 2022 Sep 30; Vol. 14 (9), pp. e29797. Date of Electronic Publication: 2022 Sep 30 (Print Publication: 2022).
DOI: 10.7759/cureus.29797
Abstrakt: Wilson's disease is a rare inherited condition that results in an excessive copper buildup in various organs, especially the liver, brain, and other vital organs, leading to cirrhosis, liver failure, neurological problems like involuntary movements, clumsy gait, speech difficulties, and psychological issues, in addition to other symptoms. It is an ATP7B gene mutation-driven autosomal recessive condition. Although the condition is present from birth, symptoms often start to show up between the ages of five and 35, when the body has accumulated enough copper. Wilson's disease may become fatal if an excessive amount of copper is accumulated in the body. It is treatable and has a good prognosis if diagnosed early. Early identification, however, is not always straightforward since symptoms might resemble those of other diseases and develop later in life when copper is absorbed by food and drink and gradually accumulates in the body's many organs. In addition to medicine, physicians advise people with Wilson's disease to avoid foods and beverages containing copper. Our patient was diagnosed with Wilson's disease at the age of 16 and was on Cuprimine which helped her to survive. Her younger sister was diagnosed at an early age and was started on a treatment regimen, which is why her sister's manifestation of Wilson's disease was less severe than hers.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2022, Tazin et al.)
Databáze: MEDLINE
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