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Paroxysmal nocturnal hemoglobinuria in a girl with hemolysis and “hematuria”

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Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder of unknown frequency. In its classic form, PNH is characterized by hemolysis accompanied by nocturnal hemoglobinuria. The clinical course is unpredictable and may vary from severe hemolysis and recurrent venous thrombosis to latent periods with milder symptoms. We report a 15-year-old girl with hemolytic episodes, abdominal pain, and passage of dark urine. Hemoglobinuria was demonstrated by a “blood”-positive dipstick test in the absence of red blood cells in the urinary sediment. The diagnosis of PNH was confirmed by flow cytometry.

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References

  1. Maugard C, Margueritte G, Tuffery S, Rabesandratana H, Demaille J, Claustres M (1997) Recurent PIG-A mutation in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test. Br J Haematol 98:21–24

    Article  CAS  PubMed  Google Scholar 

  2. Rosse WF (1997) Paroxysmal nocturnal hemoglobinuria as a molecular disease. Medicine (Baltimore) 76:63–69

    Google Scholar 

  3. Meletis J, Terpos E (2003) Recent insight into the pathophysiology of paroxysmal nocturnal hemoglobinuria. Med Sci Monit 9:161–172

    Google Scholar 

  4. Jarva H, Meri S (1999) Paroxysmal nocturnal haemoglobinuria: the disease and a hypothesis for a new treatment. Scand J Immunol 49:119–125

    Article  CAS  PubMed  Google Scholar 

  5. Young NS (2002) Acquired aplastic anemia. Ann Intern Med 136:534–546

    PubMed  Google Scholar 

  6. Rosse WF, Nishimura J (2003) Clinical manifestations of paroxysmal nocturnal hemoglobinuria: present state and future problems. Int J Hematol 77:113–120

    PubMed  Google Scholar 

  7. Kraus JS (2003) Laboratory diagnosis of paroxysmal nocturnal hemoglobinuria. Ann Clin Lab Sci 33:401–406

    PubMed  Google Scholar 

  8. Mayers G, Parker CJ (2003) Management issues in paroxysmal nocturnal hemoglobinuria. Int J Hematol 77:125–132

    PubMed  Google Scholar 

  9. Johnson RJ, Hillmen P (2002) Paroxysmal nocturnal haemoglobinuria: nature′s gene therapy. Mol Pathol 55:145–152

    Article  CAS  PubMed  Google Scholar 

  10. Ware RE, Hall SE, Rosse WF (1991) Paroxysmal nocturnal hemoglobinuria with onset in childhood and adolescence. N Engl J Med 325:991–996

    CAS  PubMed  Google Scholar 

  11. Socié G, Mary JY, Gramont A de, Rio B, Leporrier M, Rose C, Heudier P, Rochant H, Cahn JY, Gluckman E (1996) Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet 348:573–577

    Article  PubMed  Google Scholar 

  12. Hillmen P, Lewis PM, Bessler M, Luzzato L, Dacie JV (1995) Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med 333:1253–1258

    Article  CAS  PubMed  Google Scholar 

  13. Ray JG, Burows RF, Ginsberg JS, Burrows EA (2000) Paroxysmal nocturnal hemoglobinuria and the risk of venous thrombosis: review and recommendations for management of the pregnant patients. Hemostasis 30:103–107

    Article  CAS  Google Scholar 

  14. Clark DA, Butler SA, Braren V, Hartmann RC, Jenkins DE Jr (1981) The kidneys in paroxysmal nocturnal hemoglobinuria. Blood 57:83–89

    CAS  PubMed  Google Scholar 

  15. Verswijvel G, Vanbeckevoort D, Maes B, Oyen R (1999) Paroxysmal nocturnal haemoglobinuria. Nephrol Dial Transplant 14:1586–1589

    Article  CAS  PubMed  Google Scholar 

  16. May ME, May EE, Parmley RT, Spicer SS, Buse MG (1983) Renal impairment in experimental hemochromatosis in rats. Horm Metab Res 15:194–196

    CAS  PubMed  Google Scholar 

  17. Mathieu D, Rahmouni A, Villeneuve P, Anglade MC, Rochant H, Vasile N (1995) Impact of magnetic resonance imaging on the diagnosis of abdominal complications of paroxysmal nocturnal hemoglobinuria. Blood 85:3283–3288

    CAS  PubMed  Google Scholar 

  18. Roubidoux MA (1994) MR of the kidneys, liver, and spleen in paroxysmal nocturnal hemoglobinuria. Abdom Imaging 19:168–173

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital Brno, Cernopolni 9, 625 00 Brno, Czech Republic

    Zdenek Dolezel, Dana Dostalkova, Jan Blatny, Jiri Starha & Hana Gerykova

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  1. Zdenek Dolezel
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  2. Dana Dostalkova
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  3. Jan Blatny
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  4. Jiri Starha
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  5. Hana Gerykova
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Correspondence to Zdenek Dolezel.

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Dolezel, Z., Dostalkova, D., Blatny, J. et al. Paroxysmal nocturnal hemoglobinuria in a girl with hemolysis and “hematuria”. Pediatr Nephrol 19, 1177–1179 (2004). https://doi.org/10.1007/s00467-004-1563-4

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  • DOI: https://doi.org/10.1007/s00467-004-1563-4

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