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


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



: 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.

Author Biographies

Fadwa Ghassan Hameed

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

Inam Sameh, Department of
Pharmacology and Toxicology, College of Pharmacy, University of Al-Mustanseriah, Baghdad, Iraq

Mohamed Mahmood

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

Hala Sameh

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



How to Cite

Fadwa Ghassan Hameed, Inam Sameh, Mohamed Mahmood, & Hala Sameh. (2021). Clinical Manifestations with Different Treatment Protocols for Iraqi Patients with Wilson’s Disease. Indian Journal of Forensic Medicine & Toxicology, 15(4), 374-379.