title: Acute hemolytic anemia as an initial presentation of Wilson disease in children.
abstract: 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.
  
  
  OBJECTIVE
  To screen for WD among children presenting with hemolytic anemia.
  
  
  METHODS
  Twenty cases (mean age, 8.8 ± 3.9 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).
  
  
  CONCLUSIONS
  WD is not uncommon in children with hemolytic anemia after exclusion of other common causes.
authors.affiliation: *Pediatric Department, Cairo University †Pediatric Department, National Hepatology and Tropical Medicine Institute, Cairo, Egypt.
authors.forename: Mona S
authors.initials: MS
authors.lastname: El Raziky
authors.forename: Amal
authors.initials: A
authors.lastname: Ali
authors.forename: Amira
authors.initials: A
authors.lastname: El Shahawy
authors.forename: Mona M
authors.initials: MM
authors.lastname: Hamdy
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000743:Anemia, Hemolytic / Q000175:diagnosis* / Q000378:metabolism; D002570:Ceruloplasmin / Q000378:metabolism; D002614:Chelating Agents / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008111:Liver Function Tests; D008297:Male; D010396:Penicillamine / Q000378:metabolism; D011379:Prognosis
chemical_list: D002614:Chelating Agents; D002570:Ceruloplasmin; D010396:Penicillamine