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Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate
Cited 36 time in
Web of Science
Cited 39 time in Scopus
- Authors
- Issue Date
- 2007-02-13
- Publisher
- Springer Verlag
- Citation
- Pediatr Nephrol 22(6):874-880.
- Keywords
- 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 ; Treatment Outcome ; Point Mutation
- 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.
- ISSN
- 0931-041X (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17295030
https://hdl.handle.net/10371/10050
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