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Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation

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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.

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Authors and Affiliations

  1. Department of Pediatric Nephrology, Ankara Child Health, Hematology, Oncology Education and Research Hospital, Ankara, Turkey

    F. Semsa Caycı, Nilgun Cakar, Nermin Uncu, Banu Acar & Gokce Gur

  2. Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Bilim University, Istanbul, Turkey

    Veysel Sabri Hancer

Authors
  1. F. Semsa Caycı
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  2. Nilgun Cakar
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  3. Veysel Sabri Hancer
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  4. Nermin Uncu
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  5. Banu Acar
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  6. Gokce Gur
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Corresponding author

Correspondence to F. Semsa Caycı.

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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

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