Which of the following is true for Wilson disease?
Essentials of Diagnosis & Typical Features of Wilson disease Acute or chronic liver disease Deteriorating neurologic status Kayser-Fleischer rings Elevated liver copper Abnormalities in levels of ceruloplasmin and serum and urine copper. Wilson disease is caused by mutations in the gene ATP7B on chromosome 13 coding for a specific P-type adenosine triphosphatase involved in copper transpo. This results in impaired bile excretion of copper and incorporation of copper into ceruloplasmin by the liver. The disease should be considered in all children older than age 2 years with evidence of liver disease (especially with hemolysis) or with suggestive neurologic signs. Serum ceruloplasmin levels (measured by the oxidase method) are usually less than 20 mg/dL. (Normal values are 23-43 mg/dL.) Low values, however, occur normally in infants younger than 3 months, and in at least 10%-20% of homozygotes the levels may be within the lower end of the normal range (20-30 mg/dL), paicularly if immunoassays are used to measure ceruloplasmin. Rare patients with higher ceruloplasmin levels have been repoed. Serum copper levels are low, but the overlap with normal is too great for satisfactory discrimination. Urine copper excretion in children older than 3 years is normally less than 30 mcg/d; in Wilson disease, it is generally greater than 100 mcg/d although recent repos suggest it can be as low as > 40 mcg/d. Ref: Sokol R.J., Narkewicz M.R. (2012). Chapter 22. Liver & Pancreas. In W.W. Hay, Jr., M.J. Levin, R.R. Deterding, J.J. Ross, J.M. Sondheimer (Eds), CURRENT Diagnosis & Treatment: Pediatrics, 21e.
High ceruloplasmin
High serum copper
Low ceruloplasmin
Low urinary copper