Wilson disease in children; frequency and comparison with non-wilson etiology of liver diseases.

Abstract

Wilson disease is an autosomal disorder with wide-ranging clinical expressions. It mainly impinges on liver, brain, kidney and cornea. Objectives: The primary objective was to determine the frequency of Wilson disease; it’s clinical, biochemical features and outcome. The secondary objective was to compare children diagnosed with Wilson disease to those with non – Wilson etiology. Study Design: A comparative cross-sectional hospital-based study. Setting: Department of Pediatric Medicine Nishtar Hospital Multan. Period: From January 2017 to December 2017. Material & Methods: Children age 1 – 15 years presenting with hepatic manifestations (jaundice, bleeding, ascites and encephalopathy) were included in the study. Final diagnosis, clinical and biochemical features along with outcome were noted. We calculated mean and standard deviation for continuous variables and frequency and percentages for categorical variable. Results: Total 84 children with hepatic manifestations were admitted during study period. Mean age was 7.21 years (± 3.21). Males comprised 63.1% (53/84) of the study population. Wilson disease was diagnosed in 27 (32.14%) patients. Infective etiologies included Hepatitis A, B, C and E. Most common clinical presentation was that of chronic liver disease in 58.3% (49/84). Most common sign and symptom was Jaundice (97.6%).  Mean age was higher in children with Wilson disease compared to non – Wilson group (9.3 vs. 6.2). Mean serum ceruloplasmin in children with Wilson disease was 15.93 mg/dl (± 4.66) whereas mean urinary copper (µg/24 hr.) before and after Vistamine challenge were 131.1 (±47.66) and 1250.4 (± 194.43). Kayser – Fleischer rings were present in 11 (40.74%) children with Wilson disease. Mortality rate was 7.1 % (6/84) in study population and 11.1% (3/27) in children with Wilson disease. Conclusion: Wilson disease is not an infrequent diagnosis in our setup but has multiple masquerading presentations. A high index of suspicion is required to consider and investigate for Wilson disease as a possible and the treatable cause of hepatic manifestations.