Familial hemolytic uremic syndrome associated with complement factor H deficiency

J Pediatr. 2001 Mar;138(3):412-7. doi: 10.1067/mpd.2001.112649.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Blood Transfusion
  • Cerebral Infarction / etiology
  • Child, Preschool
  • Complement Factor H / deficiency*
  • Fatal Outcome
  • Female
  • Hemolytic-Uremic Syndrome / blood*
  • Hemolytic-Uremic Syndrome / complications
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / pathology
  • Hemolytic-Uremic Syndrome / therapy
  • Humans
  • Infant
  • Liver Transplantation
  • Male
  • Plasma
  • Prognosis

Substances

  • complement factor H, human
  • Complement Factor H