Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation
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CitationCayci FS, Cakar N, Hancer VS, Uncu N, Acar B, Gur G. Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation. Pediatric Nephrology. 2012; 27(12):2327-2331. doi: 10.1007/s00467-012-2283-9.
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.