摘要
Background and Aims: The liver is the first organ affected by toxic copper in the classical and severe hepatic forms of Wilson's disease(WD).Because their associated chronic liver damage is mostly asymptomatic,an intervention using a special test including serum alanine aminotransferase(ALT)activity is needed for detecting WD.Methods: Using the modified international criteria for the diagnosis of WD,45 patients were selected from the collective databases of our institutions,and 7 infants were reviewed from the literature.Two patients had the severe hepatic form,with nor-moceruloplasminemia and no mutations in ATP7B.The rapid ALT change during hemolytic anemia was adjusted for a baseline.The diagnostic potential of the ALT test was assessed from the age-dependent natural course of the liver damage of WD.Results: The natural course had three stages.ALTs were still low in some infants younger than 4 years-old.They were high in all children between the ages of 4 and 8 years-old;then,they reduced to low levels in some patients over 9 years of age.The high ALT stage represents chronic active hepatitis,and the sub-sequent low ALT stage is due to silent cirrhosis.The hepatic cop-per content is a reliable but invasive test,while urinary copper secretion is an alternative,non-invasive test for copper toxicosis of WD.The serum ceruloplasmin and ATP7B analyses are sub-type tests of WD.The response to anti-copper regimens is the final test result.Conclusions: ALTcould be the first parameter to test to detect WD in children between the ages of 4 and 8 years.
