Clinical character and therapeutic effect of late-onset Wilson disease / 中南大学学报(医学版)

ABSTRACT

OBJECTIVE@#To investigate the clinical character and therapeutic effect of late-onset Wilson disease,and to provide some evidence for its diagnosis and treatment.@*METHODS@#Clinical character, changes of copper metabolism, and therapeutic effect of 8 patients with late-onset Wilson disease were analyzed. Ceruloplasmin level was measured by nephelometry, and the copper contents in the serum, urine, and liver were measured by flame atomic absorption spectroscopy. The initial treatment was sodium dimercaptosulphonate, followed by D-penicillamine and/or zinc.@*RESULTS@#Patients with late-onset Wilson disease accounted for 7.0% of all patients, Who presented liver disease symptoms such as loss of appetite or nausea at the early stage and were misdiagnosed easily. Their blood routine and aminotransferase levels were normal in most patients with late-onset Wilson disease, and all patients had Kayser-Fleisher rings. There was significant difference between the liver function and copper metabolite test. The average urinary copper content was 4 072 microg/24 h on the first day after administrating sodium dimercaptosulphonate, which was 18.1 times as much as that before the treatment, and 2.5 times as much as that of D-penicillamine. No obvious adverse reactions were observed. The prognosis was usually good.@*CONCLUSION@#Enough attention should be paid to late-onset Wilson disease which is not rare and easy to be misdiagnosed. Good response can be expected in patients treated with sodium dimercaptosulphonate in the initial stage.