body organs resulting to mitochondria dysfunction in the cells. The dysfunction of the mitochondria results into apoptosis and continued apoptosis leads to organ lesions (Zischka et al.,2011). Clinical ManifestationThe signs and symptoms of Wilson disease depend on the body organs affected by accumulation of copper. Even though the child is born with the disorder, the symptoms do not occur immediately after birth (Dong & Wu, 2012). Copper accumulates over time and symptoms may occur several years after birth. The signs and symptoms usually affect the liver and the central nervous system. Sometimes the patients do not have any symptoms, and discovery is
COPPER AND WILSON’S DISEASE4done during routine medical check-up. The symptoms of the disease may be liver related, central nervous system and mental health among others.The patients suffering from Wilson disease usually develop chronic liver disease. The disease is characterized by fulminant hepatic failure, chronic hepatitis, cirrhosis and persistent elevated serum aminotransferases (Hay, 2009). The signs and symptoms of the liver disease include weakness, vomiting, nausea, weight loss and loss of appetite. Other liver related signs and symptoms include edema, abdominal pain, bloating, weight loss and muscle cramps. The hepatic symptoms can also manifest into jaundice and spider angiomas (Hay, 2009). The patientsdo not develop the symptoms until the copper accumulation in the liver is high resulting to acute liver failure.The signs and symptoms related to central nervous system usually appear in adults than children. The signs and symptoms include muscle stiffness, tremors and incoordination of speech, muscles, and swallowing among others. The patient may present with seizures, insomnia,gait disturbance, migraine headaches and Parkinsonism (Harada, 2012). Accumulation of copper in the neurological system impairs mental functioning of the brain resulting into psychiatric symptoms. Accumulation of copper leads to personality changes, psychosis, anxiety and depression (Hay, 2009).A classical change in the eyes is a common manifestation. The patient presents withKayser-Fleischer rings (K-F ring) and the sunflower cataract (Hay, 2009). The rings are as a result of granular deposition of copper on the peripheral layer of the cornea. On examination, a rusty-brown ring around the rim of the cornea and edge of the iris is observed. The K-F ring occurs in approximately 90% of all patients with central nervous system relate symptoms and 60% of patients with hepatic related symptoms (Hay, 2009). The disease also affects the
COPPER AND WILSON’S DISEASE5cardiovascular system resulting to reduction of platelet, red blood cells and white blood cells. The patients can also present with arthritis and high levels of carbohydrates, amino acids, uric acid and proteins in the blood. Osteoporosis, pathological fractures, adult rickets and osteomalacia, are also some of the signs and symptoms common in patients suffering from Wilson disease (Hay, 2009).
- Spring '08
- Hepatology, Wilson Disease, Wilson’s Disease