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Acute hemolytic anemia as an initial presentation of Wilson disease in children.
J Pediatr Hematol Oncol. 2014 Apr; 36(3):173-8.JP

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.

AIM

To screen for WD among children presenting with hemolytic anemia.

METHODOLOGY

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).

CONCLUSION

WD is not uncommon in children with hemolytic anemia after exclusion of other common causes.

Authors+Show Affiliations

*Pediatric Department, Cairo University †Pediatric Department, National Hepatology and Tropical Medicine Institute, Cairo, Egypt.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24577547

Citation

El Raziky, Mona S., et al. "Acute Hemolytic Anemia as an Initial Presentation of Wilson Disease in Children." Journal of Pediatric Hematology/oncology, vol. 36, no. 3, 2014, pp. 173-8.
El Raziky MS, Ali A, El Shahawy A, et al. Acute hemolytic anemia as an initial presentation of Wilson disease in children. J Pediatr Hematol Oncol. 2014;36(3):173-8.
El Raziky, M. S., Ali, A., El Shahawy, A., & Hamdy, M. M. (2014). Acute hemolytic anemia as an initial presentation of Wilson disease in children. Journal of Pediatric Hematology/oncology, 36(3), 173-8. https://doi.org/10.1097/MPH.0000000000000127
El Raziky MS, et al. Acute Hemolytic Anemia as an Initial Presentation of Wilson Disease in Children. J Pediatr Hematol Oncol. 2014;36(3):173-8. PubMed PMID: 24577547.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acute hemolytic anemia as an initial presentation of Wilson disease in children. AU - El Raziky,Mona S, AU - Ali,Amal, AU - El Shahawy,Amira, AU - Hamdy,Mona M, PY - 2014/3/1/entrez PY - 2014/3/1/pubmed PY - 2014/5/27/medline SP - 173 EP - 8 JF - Journal of pediatric hematology/oncology JO - J. Pediatr. Hematol. Oncol. VL - 36 IS - 3 N2 - 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, 8.8 ± 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). CONCLUSION: WD is not uncommon in children with hemolytic anemia after exclusion of other common causes. SN - 1536-3678 UR - https://www.unboundmedicine.com/medline/citation/24577547/Acute_hemolytic_anemia_as_an_initial_presentation_of_Wilson_disease_in_children_ L2 - http://dx.doi.org/10.1097/MPH.0000000000000127 DB - PRIME DP - Unbound Medicine ER -