Clinical Manifestations with Different Treatment Protocols for Iraqi Patients with Wilson’s Disease

Authors

  • Fadwa Ghassan Hameed
  • Inam Sameh
  • Mohamed Mahmood
  • Hala Sameh

DOI:

https://doi.org/10.37506/ijfmt.v15i4.16731

Keywords:

: WD.(Wilson disease), ATP7B gene, Kayser–Fleischer rings(KF); toxicity; Iraqi patients

Abstract

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.

Author Biographies

  • Fadwa Ghassan Hameed

    Post graduate, Department of Pharmacy, Al-Kitab University ,Kirkuk, Iraq

  • Inam Sameh

    Ass.prof., Department of
    Pharmacology and Toxicology, College of Pharmacy, University of Al-Mustanseriah, Baghdad, Iraq

  • Mohamed Mahmood

    Ass.Prof.
    Department of Clinical Pharmacy, College of Pharmacy, University of Al-Mustanseriah, Baghdad , Iraq

  • Hala Sameh

    Prof.
    Department of Pediatrics, College of Medicine, Al-Nahrain University, Baghdad, Iraq

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Published

2021-08-16

How to Cite

Clinical Manifestations with Different Treatment Protocols for Iraqi Patients with Wilson’s Disease. (2021). Indian Journal of Forensic Medicine & Toxicology, 15(4), 374-379. https://doi.org/10.37506/ijfmt.v15i4.16731