When evaluating a patient for a suspected wilson's disease diagnosis, decreased concentrations of ceruloplasmin would be expected along with increased urine copper.
Wilson's disease is an inborn error of metabolism with autosomal recessive inheritance. The ATP7B gene is responsible for most cases, and the molecular diagnosis is characterized by biallelic pathogenic variants in this gene, that is, both copies of this gene have letter changes that lead to changes in its functioning.
This gene encodes a protein that has the function of exporting copper from inside cells to plasma and it is expressed predominantly in liver and kidney cells. This process is particularly important in a liver cell called the hepatocyte and in the excretion of copper into the bile. Without this adequate transport, copper, which accumulates in the cell, leads to tissue damage and subsequent hepatitis.
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