Clinical Characteristics And Treatment Of 190 Patients With Wilson Disease

Objectives:1.To summarize and analyze the clinical manifestations of patients with Wilson disease(WD);2.To analyze the significance of ceruloplasmin,24h urinary copper and K-F ring in the diagnosis of WD in children;3.To evaluate the application of different clinical diagnostic methods in children with WD;4.To clarify the significance of genetic testing in early diagnosis of WD in children;5.To summarize the treatment of patients with WD;Methods:A retrospective review of 190 cases of Wilson disease who visited the Pediatrics Genetics Clinic of Peking Union Medical College Hospital from 1997 to 2017.The clinical informations include the manifestationt,supplementary examinations,gene results,treatment options,drug dose,efficacy,and drug-related side effects.Results:1.The average age of onset about the 190 caseswas 8.05±6.04 years old,the ratio of male to female was 1.6:1.There are 175/190 children.About 138/185 cases(74.59%),whose clinical classification were hepatic related,among which asymptomatic transaminase elevation accounted for 80.43%.2.Ceruloplasmins of the 185 cases were<0.2g/L.The children cases,whose ceruloplasmins<0.08g/L accounted for more than 80%.Urinary copper excretion greater than 40ug/24 h has a positive value about 71.53-98.21%in children WD.K-F ring has a higher positive value in patients with neurological involved.There may be an echo abnormality in liver ultrasound in patients without liver disease.3.The clinical diagnostic criteria for Wilson disease in 2008 provides a poor diagnostic accuracy(20.36%)before 7 years old.4.Both zinc and penicillamine can be used in the cases who have elevated liver enzyme alone.But it is necessary to have a close monitoring when we use zinc alone.If necessary,additional de-copper therapy is needed.5.About 29.1%of patients who had treatment with penicillamine,had adverse reactions.Including rash,cytopenia,increased titer of ANA.Conclusions:1.This study is a single-center,retrospective study,mainly in children;patients with liver-type WD accounted for 74.59%;2.Ceruloplasmin<0.08g/L,24-hour urinary copper>40ug,liver ultrasound abnormalities in children with WD have prompt significance;3.ATP7B gene analysis is of great importance in the early diagnosis of children's liver;4.Both zinc and penicillamine can be used in the cases who have elevated liver enzyme alone.5.The incidence of penicillamine side effects was 29.1%.The most common symptom was increased titer of ANA positive,rash.After close monitoring and adjustment of treatment options,no serious consequences were found.