| چکیده انگلیسی مقاله |
Following our first report in 1984, I Conducted again retrospective study of 35 more cases (24 boys and 11 girls) spanning a period of 18 years. The following clinical forms were observed: Hepatic 35, neurologic 13, hemolytic 3, mixed 2, asymptomatic 7, kayser-Fleischer Corneal rings were observed in 36 patients. Diagnosis was confirmed by low serum ceruloplasmin, low serum copper, increased urinary excretion of copper, low level of serum uric acid and abnormal increased aminoaciduria. Of different treatment sopeduled (low copper diets, D- Penicillamine , e, K. sulfide, metronidazole , T, E, T, 2 CL, BAL and oral zinc). The dietary management plus D- penicillamine and oral zinc sulfate in intolerable cases were the most effective. Mortality was low (almost 12%) due to either liver failure or overwhelming infection. Wilson’s disease is an autosomal recessive disorder of copper metabolism. The mechanism or mechanisms of copper inborn metabolism are not well understood, but following theories have been suggested. 1) Abnormal excessive absorption of copper from gastrointestinal tract. 2) Defective biliary excretion of copper. 3) Defective synethesis of the serum celuloplasmin. Wilson’s disease may be unrecognized or misdiagnosed during childhood and adolescence because of atypical presentation. The classic trial of kayser Fleischer Corneal ring, liver cirrhosis and neurological dysfunction may not be fully manifest and even the serum celuloplasmin level may be normal. The Kayser – Fleischer Corneal ring takes years to appear . Thus the main problem is the recognition of this disorder in the young and the selection of clinical and laboratory criteria that will clinically distinguish Wilson’s disease from other hepatic disorders. |
