Presentation and outcome of wilson{u2019}s disease inhepatology clinic in Cairo university children{u2019}s hospital / Reham Alsayed Mohamed Abdalfattah Ghaneya ; Supervised Magd Ahmed Kotb , Eman Draz , Christine William

Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Introduction: Wilson`s disease is an autosomal recessive genetic disorder of copper metabolism, which is characterized by hepatic, neurological and other manifestations. Aim of Work: This retrospective cohort study was planned to evaluate presentation, course and long term outcome of children suffering from Wilson{u2019}s disease at Hepatology Clinic in Cairo University Children{u2019}s Hospital. Methods: Data of one hundred patients with Wilson`s diseases diagnosed and following up in Hepatology Clinic in Cairo University Children{u2019}s Hospital including presentation, course and outcome collected from their records. Results: Results of this study showed that: among asymptomatic group only 6(24%) presented by silent liver with system involvement and the rest 19(76%) presented by silent liver and silent system which is of High significance in comparison between symptomatic and asymptomatic groups. Among Symptomatic patients only 2 (2.7%) presented by fulminant hepatitis,11(14.7%) by liver cell failure which is of High significance in comparison between symptomatic and asymptomatic groups. Other Symptomatic patients presented by Hepatitis 10 (13.3%), portal hypertention10(13.3%), organomegaly9(12%) and 27 presented by Silent liver with system involvement. Among Resolved cases 2(2.3%) presented by fulminant hepatitis, 3(5%) presented by liver cell failure, 6(10%) presented by hepatitis, 3(5%) presented by hepatitis and hepatosplenomegaly, 5(8.3%) presented by portal hypertention 5(8.3) presented by organomegaly, 21(35%) presented by silent liver with system involvement and 15(25%) presented by silent liver with no system involvement

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