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


METHODS
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.


CONCLUSIONS
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.
Department of Pediatric Nephrology, Ankara Child Health, Hematology, Oncology Education and Research Hospital, Ankara, Turkey. saltugan2001@yahoo.com
F Semsa
FS
Cayci
Nilgun
N
Cakar
Veysel Sabri
VS
Hancer
Nermin
N
Uncu
Banu
B
Acar
Gokce
G
Gur
D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D001483:Base Sequence; D002648:Child; D003172:Complement C1 / Q000235:genetics*; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation
D061067:Antibodies, Monoclonal, Humanized; D003172:Complement C1; C481642:eculizumab