Wilson Disease: generalities and focus on a correlation study for the determination of serum ceruloplasmin between two methods for its diagnosis

Abstract

Wilson's disease is an autosomal recessive disorder of copper metabolism, causing cirrhosis of the liver and neuronal degeneration. A Pearson correlation study was carried out for 165 samples from the Immunology and Nephrology Divisions of the Clinical Laboratory of the San Juan de Dios Hospital, between the method considered as a reference, which is the enzymatic activity, and the serum concentration, which is the study method. They were segregated into three different groups according to the result obtained by the enzyme activity methodology and based on the reference values defined by this reference methodology in "values below the lower reference value", "values within the reference interval" and "values higher than the upper limit of reference ". A Pearson correlation study was performed for each group. It was evidenced that there is a poor correlation for the 4 settings, obtaining r = 0.84, r = 0.40, r = 0.44 and r = 0.74 respectively. It is recommended not to perform serum ceruloplasmin determinations based solely on the concentration of this protein carried out by immunoturbidimetry, especially in patients with suspected diagnosis of Wilson's disease. It was shown that there is a low correlation between the 2 available methodologies throughout their analytical range. The enzyme activity methodology is still considered the gold standard for the determination of this protein.