Wilson Disease
| Autor: | Chaudhry HS, Anilkumar AC; SUNY Upstate Medical University |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | 2022 Jan. |
| Abstrakt: | Wilson disease or hepatolenticular degeneration is an autosomal recessive disease which results in an excess copper build up in the body. It primarily affects the liver and basal ganglia of the brain, but it can affect other organ systems too. Symptoms usually are related to the brain and liver. Liver-related symptoms include vomiting, weakness, ascites, swelling of the legs, yellowish skin, and itchiness. Brain or neurological symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and auditory or visual hallucinations. Wilson disease is an autosomal recessive condition caused by a mutation in the Wilson disease protein ( ATP7B ) gene. For a person to be affected, a copy of the gene from each parent need to be inherited. Diagnosis is difficult and involves blood tests, urine tests, and a liver biopsy along with the clinical evaluation. Genetic testing may be used to screen the family members of those affected. The genetic defect is localized to long arm of chromosome 13 (13q), which has been shown to alter the copper transporting ATP gene in the liver. The majority of patients with Wilson disease present within the first decade of life with liver dysfunction. The neuropsychiatric features are seen in the third/fourth decade of life. Wilson disease is rare but if not recognized and treated, it is fatal. (Copyright © 2022, StatPearls Publishing LLC.) |
| Databáze: | MEDLINE |
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