抄録
Wilson disease is an autosomal recessive disorder of the copper (Cu) metabolism, which is caused by mutations in the ATP7B gene. Wilson disease is treatable, but the delay of its diagnosis will make the treatment more difficult. The establishment of an analytical method for early diagnosis is a very important for early treatment. Usually, 95% of plasma Cu is bound to ceruloplasmin in blood serum and excreted into the bloodstream in the form of Cu-bound protein (holo-ceruloplasmin) in normal subjects. In the case of Wilson disease patients, ceruloplasmin is excreted into the bloodstream in the non-Cu-bound form for the mutation of the ATP7B gene. In the present study, we analyzed the Cu distribution in the serum of Wilson disease patients by HPLC/inductively coupled plasma-mass spectrometry (ICP-MS). With this method, ceruloplasmin was detected as a Cu peak at a retention time of 12.2 min in the serum of a healthy human. This result demonstrates that holo-ceruloplasmin in human serum was detectable using the present HPLC/ICP-MS method. On the other hand, on Wilson disease patients, no significant Cu was detected within this retention time. These results indicate that a normal level of holo-ceruloplasmin was not detected in the serum of Wilson disease patients. We suggest that the determination of ceruloplasmin by HPLC/ICP-MS in human serum is beneficial as a new tool for the diagnosis of Wilson disease.
