Therefore, of the 43 patients

(28 males and 15 females) who fulfilled the aforementioned diagnostic criteria, 40 (26 males and 14 females, median age at diagnosis = 6.1 years, range = 1.1-20.9) were selected for the study. We recruited for the control group patients with a liver disease other than WD who were being investigated for elevated serum aminotransferases and siblings of WD patients who were referred to our center in the same period to exclude a diagnosis of WD. Patients were included in the control group if, on at least one occasion, the levels of ceruloplasmin, basal urinary copper, and urinary copper after penicillamine

challenge were tested. Patients were considered to buy DAPT be affected this website by cryptogenic liver disease when the following entities were ruled out: WD, alpha-1-antitrypsin deficiency, infectious hepatitis, autoimmune hepatitis (AIH), biliary system disorders, drug-induced liver disease, nonalcoholic fatty liver disease (NAFLD), celiac disease, cystic fibrosis, congenital disorders of glycosylation (CDG), and extrahepatic causes of elevated serum aminotransferases. The following data at diagnosis were analyzed: age, sex, reason for referral, clinical symptoms, laboratory tests (e.g., levels of serum ceruloplasmin, basal urinary copper, urinary copper after PCT, and hepatic copper), and molecular analysis for ATP7B. The WD diagnostic scores were calculated in accordance with Ferenci et al.11 and are shown in Table 1. The diagnosis of WD was considered certain if the final score was 4 or more and probable if it was 2 to 3. Assigning points for urinary copper, we considered as upper limits of normal (ULNs) both 100 and 40 μg/24 hours. We initially calculated the score without taking into account the mutation analysis. Among the enrolled WD patients, 34 were referred

for raised serum MCE aminotransferases, and 6 were referred for familial screening. Twenty-three subjects (57.5%) presented with hepatomegaly at the clinical examination, ultrasound examination, or both. In five patients (12.5%), neurological signs were highlighted after a detailed neurological examination when the WD diagnosis was already known, and in two of these five patients, KF rings were detected. Molecular analysis for the ATP7B gene was performed for 36 patients, and disease-causing mutations were found in 34 (26 homozygotes and 8 heterozygotes). The characteristics of the WD patients are shown in Table 2. Fifty-eight patients (36 males and 22 females, median age at diagnosis = 7.1 years, range = 1-20) were enrolled as control subjects.