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Biopsy Case Studies

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Siblings should be screened for the disease (by measuring ceruloplasmin, urine copper and liver biopsy if is necessary) and until adulthood followed up unless WD has been denied by genetic analysis. 24 hour urine copper excretion Most symptomatic patients (80-90%) will have urine copper >100 µg / 24h, which is diagnostic for Wilson disease (31). However levels of 40-100 µg / 24h may be seen in some cases. About 50% of presymptomatic patients who are ultimately diagnosed as affected have urine values in an intermediate range between 60 - 100 µg/24h. Because heterozygotes may have values up to 80 µg / 24h urine (but never > 100), patients in this range may require liver biopsy for definite diagnosis. Measurement of increased cuperuresis after the administration of penicillamine has not shown to be more sensitive than an unenhanced 24-h collection for copper. Others noted that this test …show more content…

Because of some confounding factors interpretation the results is hard. In addition, higher levels may also be found in acute liver failure or chronic cholestasis. Therefore, it has limited utility. Furthermore, because 90% of copper is carried by ceruloplasmin and the latter is generally reduced in WD, serum copper values alone may be misleadingly normal. In addition serum levels of copper may be elevated during pregnancy or stress conditions since ceruloplasmin is an acute phase reactant and 90% of circulating copper is carried by ceruloplasmin. Serum Ceruloplasmin The normal value of ceruloplasmin ranges from 20 to 40 mg/dL. Levels below 18 mg/dL can be suggestive for WD. Low or absent ceruloplasmin is reported in 96% of patients (23), that results in decreased total serum copper and increased free copper. Low levels can be found in 1% of normal population and 10% of heterozygotes or carriers (Table2). So, low seruloplasmin is not diagnostic by

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