S-Space College of Medicine/School of Medicine (의과대학/대학원) Pathology (병리학전공) Journal Papers (저널논문_병리학전공)
Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate
- Cho, Hee Yeon; Lee, Byong Sop; Moon, Kyung Chul; Ha, Il Soo; Cheong, Hae Il; Choi, Yong
- Issue Date
- Springer Verlag
- Pediatr Nephrol 22(6):874-880.
- Biological Markers/metabolism; Codon, Nonsense; Complement Factor H/deficiency/genetics; DNA Mutational Analysis; Hemolytic-Uremic Syndrome/*blood/genetics/therapy; Kidney Failure/blood/genetics/therapy; Kidney Glomerulus/metabolism/pathology/ultrastructure; Mutation, Missense; Plasma Exchange/methods; *Point Mutation; Treatment Outcome
- 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.
- 0931-041X (Print)
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