Hemolytic-uremic syndrome classification: Difference between revisions
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==== Primary Causes ==== | ==== Primary Causes ==== | ||
* Complement Factor abnormalities | * Complement Factor abnormalities | ||
** Complement factor H (CFH) mutation/ Factor H Defeciency (Autosomal Dominant) | ** Complement factor H (CFH) mutation/ Factor H Defeciency (Autosomal Dominant)<ref name="pmid14978182">{{cite journal| author=Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G et al.| title=Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. | journal=J Am Soc Nephrol | year= 2004 | volume= 15 | issue= 3 | pages= 787-95 | pmid=14978182 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14978182 }} </ref> | ||
** Complement Factor I(CFI) Defeciency (Acquired antibody mediated) | ** Complement Factor I(CFI) Defeciency (Acquired antibody mediated)<ref name="pmid15173250">{{cite journal| author=Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B et al.| title=Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. | journal=J Med Genet | year= 2004 | volume= 41 | issue= 6 | pages= e84 | pmid=15173250 | doi= | pmc=1735822 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15173250 }} </ref><ref name="pmid15917334">{{cite journal| author=Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G et al.| title=Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. | journal=J Am Soc Nephrol | year= 2005 | volume= 16 | issue= 7 | pages= 2150-5 | pmid=15917334 | doi=10.1681/ASN.2005010103 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15917334 }} </ref> | ||
** Membrane co-factor protein Defeciency (MCP; CD46)<ref name="pmid17914026">{{cite journal| author=Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH et al.| title=Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. | journal=Blood | year= 2008 | volume= 111 | issue= 2 | pages= 624-32 | pmid=17914026 | doi=10.1182/blood-2007-04-084533 | pmc=2200836 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17914026 }} </ref> | ** Membrane co-factor protein Defeciency (MCP; CD46)<ref name="pmid17914026">{{cite journal| author=Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH et al.| title=Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. | journal=Blood | year= 2008 | volume= 111 | issue= 2 | pages= 624-32 | pmid=17914026 | doi=10.1182/blood-2007-04-084533 | pmc=2200836 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17914026 }} </ref><ref name="pmid16762990">{{cite journal| author=Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A et al.| title=Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. | journal=J Am Soc Nephrol | year= 2006 | volume= 17 | issue= 7 | pages= 2017-25 | pmid=16762990 | doi=10.1681/ASN.2005101051 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16762990 }} </ref> | ||
** Factor B Overactivity (Complement Factor B mutation)<ref name="pmid24652797">{{cite journal| author=Marinozzi MC, Vergoz L, Rybkine T, Ngo S, Bettoni S, Pashov A et al.| title=Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? | journal=J Am Soc Nephrol | year= 2014 | volume= 25 | issue= 9 | pages= 2053-65 | pmid=24652797 | doi=10.1681/ASN.2013070796 | pmc=4147975 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24652797 }} </ref> | ** Factor B Overactivity (Complement Factor B mutation)<ref name="pmid24652797">{{cite journal| author=Marinozzi MC, Vergoz L, Rybkine T, Ngo S, Bettoni S, Pashov A et al.| title=Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign? | journal=J Am Soc Nephrol | year= 2014 | volume= 25 | issue= 9 | pages= 2053-65 | pmid=24652797 | doi=10.1681/ASN.2013070796 | pmc=4147975 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24652797 }} </ref> | ||
Revision as of 18:25, 2 August 2018
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Hemolytic-uremic syndrome Microchapters |
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Differentiating Hemolytic-uremic syndrome from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
HUS may be classified according etiology into 4 subtypes including diarrhoea-associated HUS, non-diarrhea-associated HUS (D−HUS), Streptococcus pneumoniae‐associated HUS, diacylglycerol kinase‐ε (DGKE)‐associated HUS.
Classification
Hemolytic-Uremic syndrome (HUS) may be classified as follows:
Typical Or Diarrhea Related
- Shiga-Toxin producing E.Coli/ Shigella infection
Atypical or Non Diarrheal
Primary Causes
- Complement Factor abnormalities
References
- ↑ Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G; et al. (2004). "Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases". J Am Soc Nephrol. 15 (3): 787–95. PMID 14978182.
- ↑ Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B; et al. (2004). "Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome". J Med Genet. 41 (6): e84. PMC 1735822. PMID 15173250.
- ↑ Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G; et al. (2005). "Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome". J Am Soc Nephrol. 16 (7): 2150–5. doi:10.1681/ASN.2005010103. PMID 15917334.
- ↑ Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH; et al. (2008). "Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome". Blood. 111 (2): 624–32. doi:10.1182/blood-2007-04-084533. PMC 2200836. PMID 17914026.
- ↑ Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A; et al. (2006). "Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome". J Am Soc Nephrol. 17 (7): 2017–25. doi:10.1681/ASN.2005101051. PMID 16762990.
- ↑ Marinozzi MC, Vergoz L, Rybkine T, Ngo S, Bettoni S, Pashov A; et al. (2014). "Complement factor B mutations in atypical hemolytic uremic syndrome-disease-relevant or benign?". J Am Soc Nephrol. 25 (9): 2053–65. doi:10.1681/ASN.2013070796. PMC 4147975. PMID 24652797.