Paroxysmal nocturnal hemoglobinuria in pediatric patients Journal Article

  


Authors: Curran, K. J.; Kernan, N. A.; Prockop, S. E.; Scaradavou, A.; Small, T. N.; Kobos, R.; Castro-Malaspina, H.; Araten, D.; DiMichele, D.; O'Reilly, R. J.; Boulad, F.
Article Title: Paroxysmal nocturnal hemoglobinuria in pediatric patients
Abstract: Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease in children. The most significant clinical features of PNH include: bone marrow failure, intravascular hemolysis, and thrombosis. To further characterize the clinical presentation and outcome to treatment we performed a retrospective analysis of pediatric patients with PNH. Procedure: We reviewed the medical records of 12 consecutive pediatric patients with PNH diagnosed at our institution from 1992 to 2010. Results: Presenting clinical symptoms included: bone marrow failure (N=10); gross hemoglobinuria with isolated red cell anemia (N=1); and jaundice, hepatitis, and isolated thrombocytopenia (N=1). Immunosuppressive therapy was the initial treatment for 8 patients. Five patients had myelodysplastic features without developing excessive blasts or leukemic transformation. Thrombosis occurred in 6 patients. Five patients underwent hematopoietic stem cell transplant (HSCT) of whom 3 patients are alive and disease-free. Three patients received anti-complement therapy with eculizumab. Two patients died following complications related to thrombosis and 2 patients are transfusion independent with stable disease. Conclusion: This report highlights a high rate of bone marrow failure along with a low rate of hemoglobinuria at presentation, a high rate of thrombosis, and for some patients the spontaneous resolution of myelodysplastic features. Delay in diagnosis is common and we recommend appropriate PNH testing in all patients with AA, MDS, unexplained Coombs-negative hemolysis, or thrombosis. While HSCT remains the only curative option the high prevalence of hemolysis and thrombosis should warrant the consideration of early treatment with anti-complement therapy. © 2011 Wiley Periodicals, Inc.
Keywords: adolescent; adult; child; clinical article; preschool child; school child; child, preschool; retrospective studies; hepatitis; anemia; bone marrow; hemolysis; thrombocytopenia; prevalence; hematopoietic stem cell transplantation; medical record review; retrospective study; pediatric; bilirubin; symptom; myelodysplastic syndrome; thrombosis; jaundice; lactate dehydrogenase; pancytopenia; delayed diagnosis; immunosuppressive treatment; cyclosporin a; bilirubin blood level; lactate dehydrogenase blood level; immunosuppressive agents; paroxysmal nocturnal hemoglobinuria; thymocyte antibody; aplastic anemia; thrombocyte transfusion; hemoglobinuria, paroxysmal; bone marrow depression; eculizumab; childhood disease; coombs test; hemoglobinuria; pure red cell anemia; reticulocytosis
Journal Title: Pediatric Blood and Cancer
Volume: 59
Issue: 3
ISSN: 1545-5009
Publisher: Wiley Periodicals, Inc  
Date Published: 2012-09-01
Start Page: 525
End Page: 529
Language: English
DOI: 10.1002/pbc.23410
PUBMED: 22147651
PROVIDER: scopus
DOI/URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84862263225&partnerID=40&md5=95d6b39a7379a55d600f3c673019a3c5
Notes: --- - "Cited By (since 1996): 1" - "Export Date: 28 January 2013" - "CODEN: PBCEA" - "Source: Scopus"
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MSK Authors
  1. Nancy Kernan
    512 Kernan
  2. Trudy Small
    234 Small
  3. Farid Boulad
    329 Boulad
  4. Susan E Prockop
    262 Prockop
  5. Andromachi Scaradavou
    243 Scaradavou
  6. Kevin Joseph Curran
    144 Curran
  7. Hugo Castro-Malaspina
    333 Castro-Malaspina
  8. Richard O'Reilly
    747 O'Reilly
  9. Rachel Kobos
    75 Kobos
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