Clinical Manifestations with Different Treatment Protocols for Iraqi Patients with Wilson’s Disease
Keywords:: WD.(Wilson disease), ATP7B gene, Kayser–Fleischer rings(KF); toxicity; Iraqi patients
Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism caused by mutations in
the ATP7B gene. ATP7B is also essential for biliary excretion of copper when cytoplasmic levels are high.
Dysfunction of ATP7B therefore leads to accumulation of copper in the liver giving rise to cellular damage
and disease, and the release of non-ceruloplasmin bound copper into the systemic circulation. Clinical
presentation of Wilson disease can vary widely; therefore diagnosis is not always straight forward. Wilson
disease is not just a disease of children and young adults, but may present at any age. The key features of
Wilson disease are liver disease and cirrhosis, neuropsychiatric disturbances, Kayser–Fleischer rings, and
acute episodes of hemolysis, often in association with acute liver failure. Diagnosis is particularly difficult
in children and in adults presenting with active liver disease. None of the available laboratory tests is perfect
and may not be specific for Wilson disease. To overcome the diagnostic challenge, several clinical signs
(Kayser–Fleischer rings(KF.), neurologic symptoms) and laboratory features (copper in serum, urine, liver;
serum ceruloplasmin ; genetic testing) are scored 0 (absent) to 2 (present) and the Leipzig score is calculated.
If the score is >4, the diagnosis of Wilson disease is very likely. For asymptomatic siblings of index patients,
mutation analysis is the most reliable approach.
How to Cite
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Re use and mixing of content policy- We follow Creative Commons Licence Policy. We follow CC BY. Please refer below for all details
This license lets others distribute, remix, adapt, and build upon our work, even commercially, as long as they credit us for the original creation.
- The journal allows readers to read, download, copy, distribute, print, search, or link to the full texts of its articles and allow readers to use them for any other lawful purpose.
- The journal allows the author(s) to hold the copyright without restrictions.
- The journal allows the author(s) to retain publishing rights without restrictions