Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Features +++ Essentials of Diagnosis ++ Acute or chronic liver disease Deteriorating neurologic status Kayser-Fleischer rings Elevated liver copper Abnormalities in levels of ceruloplasmin and serum and urine copper +++ General Considerations ++ Caused by mutations in the gene ATP7B on chromosome 13 coding for a specific P-type adenosine triphosphatase involved in copper transport; this results in impaired bile excretion of copper and incorporation of copper into ceruloplasmin by the liver Accumulated hepatic copper causes oxidant (free-radical) damage to the liver Subsequently, copper accumulates in the basal ganglia and other tissues +++ Demographics ++ 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 A family history is often present, and 25% of patients are identified by screening asymptomatic homozygous family members Disease is autosomal recessive Occurs in 1:30,000 live births in all populations +++ Clinical Findings +++ Symptoms and Signs ++ Hepatic involvement may present as Acute liver failure Acute hepatitis Chronic liver disease Cholelithiasis Fatty liver disease Cirrhosis with portal hypertension Jaundice Hepatomegaly early in childhood Splenomegaly Kayser-Fleischer rings Brown band at the junction of the iris and cornea, generally requiring slit-lamp examination for detection Absence does not exclude diagnosis Neurologic or psychiatric manifestations after age 10 years may include Tremor Dysarthria Drooling +++ Differential Diagnosis ++ Acute or chronic viral hepatitis α1-Antitrypsin deficiency Autoimmune hepatitis Drug-induced hepatitis Nonalcoholic steatohepatitis (NASH) Indian childhood cirrhosis Tyrolean childhood cirrhosis Idiopathic copper toxicosis +++ Diagnosis +++ Laboratory Findings ++ Acute disease characterized by Anemia Hemolysis Very high serum bilirubin levels (> 20–30 mg/dL) Low alkaline phosphatase Low uric acid Plasma ceruloplasmin levels (measured by the oxidase method) Usually < 20 mg/dL Low values, however, occur normally in infants <3 months Serum copper levels Low, but overlap with normal is too great for satisfactory discrimination Markedly elevated in acute fulminant Wilson disease, owing to hepatic necrosis and release of copper Urine copper excretion in children older than 3 years Normally < 30 μg/d In Wilson disease, generally > 100 μg/d although it can be as low as > 40 μg/d Glycosuria and aminoaciduria have been reported Hemolysis and gallstones may be present Bone lesions simulating those of osteochondritis dissecans have also been found Presence of Mallory bodies is strongly suggestive of Wilson disease +++ Diagnostic Procedures ++ Tissue content of copper from a liver biopsy Normally <40–50 μg/g dry tissue In most patients with Wilson disease, >250 μg/g May be as low as > 75 μg/d when characteristic liver histology is present Electron microscopy findings of abnormal mitochondria may be helpful Genetic testing (haplotype analysis or ATP7B genotyping) is available for family members ... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.