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Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Cho, Hee Yeon | - |
dc.contributor.author | Lee, Byong Sop | - |
dc.contributor.author | Moon, Kyung Chul | - |
dc.contributor.author | Ha, Il Soo | - |
dc.contributor.author | Cheong, Hae Il | - |
dc.contributor.author | Choi, Yong | - |
dc.date.accessioned | 2009-10-05 | - |
dc.date.available | 2009-10-05 | - |
dc.date.issued | 2007-02-13 | - |
dc.identifier.citation | Pediatr Nephrol 22(6):874-880. | en |
dc.identifier.issn | 0931-041X (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17295030 | - |
dc.identifier.uri | https://hdl.handle.net/10371/10050 | - |
dc.description.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. | en |
dc.language.iso | en | en |
dc.publisher | Springer Verlag | en |
dc.subject | Biological Markers/metabolism | en |
dc.subject | Codon, Nonsense | en |
dc.subject | Complement Factor H/deficiency/genetics | en |
dc.subject | DNA Mutational Analysis | en |
dc.subject | Hemolytic-Uremic Syndrome/*blood/genetics/therapy | en |
dc.subject | Kidney Failure/blood/genetics/therapy | en |
dc.subject | Kidney Glomerulus/metabolism/pathology/ultrastructure | en |
dc.subject | Mutation, Missense | en |
dc.subject | Plasma Exchange/methods | en |
dc.subject | Treatment Outcome | en |
dc.subject | Point Mutation | - |
dc.title | Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 조희연 | - |
dc.contributor.AlternativeAuthor | 이병섭 | - |
dc.contributor.AlternativeAuthor | 문경철 | - |
dc.contributor.AlternativeAuthor | 하일수 | - |
dc.contributor.AlternativeAuthor | 정해일 | - |
dc.contributor.AlternativeAuthor | 최용 | - |
dc.identifier.doi | 10.1007/s00467-007-0438-x | - |
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