A 19-year-old woman is bothered by a tremor at rest, which becomes progressively worse over the next 6 months. She exhibits paranoid ideation with auditory hallucinations and is diagnosed with acute psychosis. On physical examination, she has scleral icterus. A slit-lamp examination shows corneal Kayser-Fleischer rings. Laboratory findings include total serum protein, 5.9 g/dL; albumin, 3.1 g/dL; total bilirubin, 4.9 mg/dL; direct bilirubin, 3.1 mg/dL; AST, 128 U/L; ALT, 157 U/L; and alkaline phosphatase, 56 U/L. Which of the following additional serologic test findings is most likely to be reported in this patient?
Correct Answer: Decreased ceruloplasmin level
Description: Wilson disease is an inherited disorder in which toxic levels of copper accumulate in tissues, particularly the brain, eye, and liver. The ATP7B gene for Wilson disease encodes a copper-transporting ATPase in the hepatocytes. With mutations in this gene, copper cannot be secreted into plasma. Ceruloplasmin is an a2 -globulin that carries copper in plasma. Because copper cannot be secreted into plasma, ceruloplasmin levels are low. Chronic liver disease and panlobular emphysema may occur in a1 -antitrypsin deficiency. An increased a-fetoprotein is a marker for hepatocellular carcinoma. Increased serum ferritin may indicate hereditary hemochromatosis. A positive finding for antimitochondrial antibody can be seen in primary biliary cirrhosis. A positive HBsAg result indicates HBV, which infects only the liver.
Category:
Pathology
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