Familial hemolytic uremic syndrome associated with complement factor H deficiency.
Atypical hemolytic uremic syndrome (HUS) associated with factor H deficiency (FHD) carries a poor prognosis. A 3-year-old girl with FHD-HUS reached end-stage renal disease at age 6 months after experiencing numerous relapses; she underwent a cadaveric renal transplant at age 46 months. One month after transplantation, she experienced an extensive non-hemorrhagic cerebral infarction. Later, hematologic and renal manifestations of HUS developed, followed by another massive cerebral infarction and death in spite of multiple plasma transfusions. A 14-month-old boy with FHD-HUS experienced numerous HUS episodes starting at the age of 2 weeks. Daily plasma transfusions during relapses brought about only a temporary state of remission. However, prophylactic twice-weekly plasma therapy has been successful in preventing relapses and preserving renal function. With this regimen, serum factor H was increased from 6 mg/dL to subnormal values of 12 to 25 mg/dL (normal >60 mg/dL). We conclude that FHD-HUS recurs because FHD is not corrected by renal transplantation. A hypertransfusion protocol may prevent FHD-HUS.
Landau
D
D
Department of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Shalev
H
H
Levy-Finer
G
G
Polonsky
A
A
Segev
Y
Y
Katchko
L
L
D001803:Blood Transfusion; D002544:Cerebral Infarction / Q000209:etiology; D002675:Child, Preschool; D017242:Complement Factor H / Q000172:deficiency*; D017809:Fatal Outcome; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000097:blood* / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006801:Humans; D007223:Infant; D016031:Liver Transplantation; D008297:Male; D010949:Plasma; D011379:Prognosis
C493495:CFH protein, human; D017242:Complement Factor H