Pediatric Nephrology

, Volume 22, Issue 6, pp 874–880 | Cite as

Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate

  • Hee Yeon Cho
  • Byong Sop Lee
  • Kyung Chul Moon
  • Il Soo Ha
  • Hae Il Cheong
  • Yong Choi
Original Article

Abstract

Recent advances have shown that atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. Almost 50% of cases are associated with mutations in the three complement regulatory genes, factor H (HF1), membrane co-factor protein (MCP) and factor I (IF). The corresponding gene products act in concert and affect the same enzyme, alternative pathway convertase C3bBb, which initiates the alternative pathway and amplification of the complement system. Factor H (FH) deficiency-associated aHUS usually occurs in infants to middle-aged adults and only rarely in neonates. Moreover, the vast majority of patients are heterozygous for the HF1 gene mutations. We report on a case of neonatal-onset aHUS associated with complete FH deficiency due to novel compound heterozygous mutations in the HF1 gene. A 22-day-old baby girl developed acute renal failure and a remarkably low serum complement C3 level, which was rapidly followed by the development of micro-angiopathic hemolytic anemia. Western blot analysis revealed nearly zero plasma FH levels, and an HF1 gene study showed compound heterozygous mutations, C1077W/Q1139X. Renal pathology findings were compatible with glomerular involvement in HUS. The baby recovered completely after the repetitive infusion of fresh frozen plasma. During follow-up (until she was 20 months old) after the initial plasma therapy, the disease recurred three times; twice after the tapering off of plasma therapy, and once during a weekly plasma infusion. All recurrence episodes were preceded by an upper respiratory tract infection, and were successfully managed by restarting or increasing the frequency of plasma therapy.

Keywords

Factor H deficiency Atypical hemolytic uremic syndrome Plasma therapy Neonate 

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Copyright information

© IPNA 2007

Authors and Affiliations

  • Hee Yeon Cho
    • 1
  • Byong Sop Lee
    • 2
  • Kyung Chul Moon
    • 3
  • Il Soo Ha
    • 1
  • Hae Il Cheong
    • 1
  • Yong Choi
    • 1
  1. 1.Department of PediatricsSeoul National University Children’s HospitalSeoulSouth Korea
  2. 2.Department of Pediatrics, Asan Medical CenterUniversity of Ulsan College of MedicineSeoulSouth Korea
  3. 3.Department of PathologySeoul National University HospitalSeoulSouth Korea

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