Clinical and Laboratory Findings in Patients with Wilson’s disease Referred to Pediatric Gastroenterology Clinic in 2018-2019

Early diagnosis and treatment of Wilson's disease in childhood can reduce long-term and life-threatening complications in these patients. Considering the lack of a database of Wilson's patients in Iranian patients, the present study was carried out with the primary objective of determining clinical and laboratory presentations in children with Wilson's disease referred to Akbar Hospital in Mashhad.

This cross-sectional descriptive study was conducted on children under 18 years of age with Wilson's disease who had presented to Akbar Children's Hospital in Mashhad during 2018-2019. The acquired information included demographic information, primary clinical symptoms (hepatic, cerebral, and psychological symptoms), and laboratory findings, including liver laboratory profile (AST, ALT, and ALP tests), coagulation tests, albumin, total serum protein, and direct and indirect bilirubin, and Wilson's diagnostic tests.

In total, 25 patients with an average age of 15.88±4.54 years were included in this study. Hepatosplenomegaly, Kayser–Fleischer ring, and jaundice were observed in 72%, 68%, and 48% of patients, respectively. Gender of patients was not significantly correlated with the clinical and laboratory findings of Wilson’s disease (P<0.05). 24-hour urine copper level was higher than 100 micrograms in 82.6% of patients. Serum ceruloplasmin level was lower than 200 mg/liter in 90% of patients. Serum ceruloplasmin levels in patients with ascites (P=0.04) and patients with lower limb edema (P=0.02) were higher than those in patients without these findings. Moreover, a lower 24-hour urinary copper level was detected in patients with seizures (P=0.03), and patients with depression (P=0.005) compared to patients without these conditions. The 24-hour urine copper levels were higher in patients with jaundice than in those without jaundice (P=0.01).

Hepatosplenomegaly, Kayser–Fleischer ring, and jaundice are common symptoms in under 18-year-old patients with Wilson's disease. Considering the findings regarding the high levels of serum ceruloplasmin and copper in 24-hour urine in a significant