Tage of patients who had died or reached ESRF was approximately > 문의하기

Tage of patients who had died or reached ESRF was approximately 75 in CFH-mutated patients and 50-60 in CFI-mutated patients, whether adults or children [17,18]. While 38 of MCP-mutated children in the French pediatric cohort had reached ESRF at 5 years follow-up after a number of relapses, only 6 of MCPmutated patients in the Italian registry had developed ESRF at that stage, varying from 0 in children to 25 in adults [18]. The prognosis of HUS with C3 [18,83] or CFB [18,80,81] mutation is as poor as that of CFH-HUS, whatever the age at onset. Patients PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/26843381 with THBD mutations also have a poor outcome, with evolution to ESRD in 46 of patients at 1 year and Tert-butyl 2-(chloromethyl)pyrrolidine-1-carboxylate 54 at 3 years follow-up [18]. Among patients with anti-CFH antibodies, 35 [37] to 60 [18] developed ESRD within 3 years follow-up. Recent progress in diagnosis (e.g. early detection of anti-CFH antibodies) and therapeutic options, including early aggressive and prolonged plasma therapy and the use of eculizumab, most probably will allow a much better outcome of the disease. It is not unrealistic to consider that the poor prognosis indicated by presently available cohorts will soon appear as outdated.Conclusion The progress in PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/12711626 the understanding of the physiopathology of aHUS during the last decade has opened the way to new therapies which hopefully will prevent the evolution to ESRF in the patients at risk, and allow a successful transplantation in the patients presently on dialysis. Recent trials and clinical experience confirm the efficiency of the complement blocker eculizumab. The challenge is now to define the best choice for each individual patient, according to the identified complement anomaly (ies) and the phase of the disease, between plasma therapy, eculizumab, liver or combined live-kidney transplantation and, in the near future, CFH concentrate or recombinant CFH. Thanks to the progress in knowledge and comprehension, the disease has entered a new era.Abbreviations ADAMTS 13: A Disintegrin And Metalloprotease with ThromboSpondin type 1 repeats 13; aHUS: atypical hemolytic uremic syndrome; APL:Loirat and Fr eaux-Bacchi Orphanet Journal of Rare Diseases 2011, 6:60 http://www.ojrd.com/content/6/1/Page 25 ofantiphospholipid; CFH: complement factor H; CFI: complement factor I; CFB: complement factor B; CNS: central nervous system; D+ HUS: post-diarrheal hemolytic uremic syndrome; (D-) HUS: non-post-diarrheal hemolytic uremic syndrome; Elisa, enzyme linked immunosorbent assay; ESRF: end-stage renal failure; FFP: fresh frozen plasma; HELLP syndrome: Hemolytic anemia, elevated Liver enzymes, and Low Platelets syndrome; HLA: human leukocyte antigen; HUS: hemolytic uremic syndrome; LDH: lactate deshydrogenase; MAC: membrane attack complex; MCP: membrane cofactor protein; MLPA: Multiplex Ligation dependent Probe Amplification; MRI: magnetic resonance imaging; PCR: polymerase chain reaction; PI: plasma infusion; PE: plasma exchange; RBC: red blood cell; RCA: regulators of complement activation; SCR: short consensus repeat; SLE: systemic lupus erythematosus; SNP: Single Nucleotide Polymorphism; Stx: Shiga-like toxin; STEC: Shiga-toxin producing Escherichia coli; S pneumoniae: Streptococcus pneumoniae; THBD: thrombomodulin; TMA: thrombotic microangiopathy; TTP: thrombotic thrombocytopenic purpura; USA: United States of America; VEGF: vascular endothelial growth factor Acknowledgements Dr Fadi Fakhouri, Dr Julien Zuber and the Groupe d'Etude du SHU et des Glom ulon Tert-butyl 2-(chloromethyl)pyrrolidine-1-carboxylate hrites membrano.