Acute Hemolytic Anemia as an Initial Presentation of Wilson Disease in Children

作者：El Raziky Mona S; Ali Amal; El Shahawy Amira; Hamdy Mona M^*

来源：Journal of Pediatric Hematology/Oncology, 2014, 36(3): 173-178.

DOI：10.1097/MPH.0000000000000127

• Wilson disease
• hemolytic anemia
• screening

Background:Wilson disease (WD) is an inherited disorder of copper metabolism. Hemolytic anemia in WD occurs in up to 17% of patients at some point during their illness.Aim:To screen for WD among children presenting with hemolytic anemia.Methodology:Twenty cases (mean age, 8.83.9 y) with Coombs-negative hemolytic anemia, attending the hematology clinic of children hospital, Cairo University, were screened for WD by serum ceruloplasmin level, 24 hours urinary copper before and after D-penicillamine challenge test, and slit-lamp examination for detecting Kayser-Fleischer rings.Results:No case had low ceruloplasmin, whereas bilateral Kayser-Fleischer rings was detected in 5% of our cases. Urinary copper was elevated in 5% before and in 40% after D-penicillamine challenge test. According to the scoring system used, 1 case had definite WD and 7 cases were likely to have WD. These 8 (40%) cases were referred to as group B. Group B had a significantly lower hemoglobin, mean corpuscular volume, mean corpuscular hemoglobin, and reticulocytes (P=0.04, 0.001, 0.04, and 0.04, respectively) and a significantly higher urinary copper after penicillamine (P=0.000) when compared with group A (unlikely WD).Conclusion:WD is not uncommon in children with hemolytic anemia after exclusion of other common causes.

• 出版日期2014-4