Abstract
Background
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in childhood. It usually occurs after a prodromal episode of diarrhea and it leads to significant morbidity and mortality during the acute phase. However, cases that start as diarrhea-positive HUS whose renal function fail to recover should be screened for genetic disorders of the complement system, which is called atypical HUS (aHUS).
Case-Diagnosis/Treatment
We herein report a 10-year-old girl, who initially came with bloody diarrhea and had features of HUS with delayed renal and hematological recovery despite plasma therapy. Eculizumab (600 mg/week) was initiated on day 15 for atypical presentation and later a complement factor I (CFI) mutation was detected. The girl recovered diuresis within 24 h and after the third eculizumab infusion, hemoglobin, platelet, and C3 levels normalized; renal function improved; and proteinuria completely disappeared in 2 weeks.
Conclusion
It is our belief that eculizumab can be the treatment of choice in children who have plasma exchange-refractory HUS with defective regulation of the alternative complement pathway.
References
Waters AM, Licht C (2011) aHUS caused by complement dysregulation: new therapies on horizon. Pediatr Nephrol 26:41–57
Besbas N, Karpman D, Landau D, Loirat C, Proesmans W, Remuzzi G, Rizzoni G, Taylor CM, Van de Kar N, Zimmerhackl LB, European Paediatric Research Group for HUS (2006) A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int 70:423–431
Nilsson SC, Sim RB, Lea SM, Fremeaux-Bacchi V, Blom AM (2011) Complement factor I in health and disease. Mol Immunol 48:1611–1620
Boyer O, Niaudet P (2011) Hemolytic uremic syndrome: new developments in pathogenesis and treatment. Int J Nephrol 2011:908407
Cavagnaro F, Guzman C, Harris P (2006) Hemolytic uremic syndrome associated with Entamoeba histolytica intestinal infection. Pediatr Nephrol 21:126–128
Sánchez-Corral P, Melgosa M (2010) Advances in understanding the aetiology of atypical Haemolytic Uraemic Syndrome. Br J Haematol 150:529–542
Sethi SK, Marie-Agnes DD, Thaker N, Hari P, Bagga A (2009) Hemolytic uremic syndrome due to homozygous factor H deficiency. Clin Exp Nephrol 13:526–530
Gupta A, Khaira A, Rathi OP, Mahajan S, Bhowmik D, Agarwal SK, Tiwari SC (2011) Diarrhea-related hemolytic uremic syndrome: unmasking antifactor H antibodies. Saudi J Kidney Dis Transpl 22:1017–1018
Mache CJ, Acham-Roschitz B, Frémeaux-Bacchi V, Kirschfink M, Zipfel PF, Roedl S, Vester U, Ring E (2009) Complement inhibitor eculizumab in atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 4:1312–1316
Johnson S, Taylor CM (2008) What’s new in haemolytic uraemic syndrome? Eur J Pediatr 167:965–971
Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB, European Paediatric Study Group for HUS (2009) Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol 24:687–696
Tschumi S, Gugger M, Bucher BS, Riedl M, Simonetti GD (2011) Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings. Pediatr Nephrol 26:2085–2088
Ariceta G, Arrizabalaga B, Aguirre M, Morteruel E, Lopez-Trascasa M (2012) Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. Am J Kidney Dis 59:707–710
Prescott HC, Wu HM, Cataland SR, Baiocchi RA (2010) Eculizumab therapy in an adult with plasma exchange-refractory atypical hemolytic uremic syndrome. Am J Hematol 85:976–977
Lapeyraque AL, Malina M, Fremeaux-Bacchi V, Boppel T, Kirschfink M, Oualha M, Proulx F, Clermont MJ, Le Deist F, Niaudet P, Schaefer F (2011) Eculizumab in severe Shiga-toxin-associated HUS. N Engl J Med 364:2561–2563
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Caycı, F.S., Cakar, N., Hancer, V.S. et al. Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation. Pediatr Nephrol 27, 2327–2331 (2012). https://doi.org/10.1007/s00467-012-2283-9
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DOI: https://doi.org/10.1007/s00467-012-2283-9