Hemolytic-uremic syndrome classification: Difference between revisions
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{{HUS}} | {{HUS}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{S.G.}}, {{AHS}} | ||
==Overview== | ==Overview== | ||
HUS may be classified | [[Hemolytic-uremic syndrome|HUS]] may be classified as typical (caused by [[Shiga toxin E. coli|Shiga-toxin producing ''E. coli''/]] [[Shigella infection]]) or atypical (caused by [[complement]] factor abnormalities, other [[viral]] or [[bacterial infections]], [[HIV]], [[malignancy]], [[Organ transplant|organ transplantation]], and rarely [[SLE]] and [[pregnancy]] related). | ||
==Classification== | |||
Hemolytic-uremic syndrome (HUS) may be classified as follows: | |||
* | |||
=== '''Typical Or Diarrhea Related''' === | |||
* [[Shiga toxin-producing E. coli|Shiga toxin producing E. Coli]]/ [[Shigella infection]] | |||
== | === Atypical or Non Diarrheal === | ||
==== Primary Causes ==== | |||
* [[Complement]] factor abnormalities | |||
** [[Complement]] factor H (CFH) [[mutation]]/ factor H [[deficiency]] ([[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) [[deficiency]] ([[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-bound transcription factor peptidase, site 1|Membrane]] co-factor [[protein]] [[deficiency]] (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> | |||
** [[Diacylglycerol kinase]] epsilon gene [[mutations]]<ref name="pmid26887830">{{cite journal| author=Zhu J, Chaki M, Lu D, Ren C, Wang SS, Rauhauser A et al.| title=Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production. | journal=Am J Physiol Renal Physiol | year= 2016 | volume= 310 | issue= 9 | pages= F895-908 | pmid=26887830 | doi=10.1152/ajprenal.00431.2015 | pmc=4867310 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26887830 }} </ref> | |||
==== Secondary Causes ==== | |||
* Infection | |||
** [[Pneumococcal infections|Pneumococcal infection]] (commonly [[pneumonia]], [[empyema]], [[meningitis]], and less commonly [[pericarditis]], [[peritonitis]], [[otitis media]], and [[bacteremia]])<ref>Copelovitch, L. & Kaplan, B.S. Pediatr Nephrol (2008) 23: 1951. https://doi.org/10.1007/s00467-007-0518-y</ref> | |||
}}</ref><ref name=" | ** [[HIV]] | ||
** Other [[viral]] or [[bacterial infections]] | |||
* | * [[Drug]] associated | ||
** [[Antineoplastic]] | |||
** [[Immunosuppressive]] | |||
*Diacylglycerol | ** [[Anti-platelet]] | ||
* [[Malignancy]] | |||
* [[Pregnancy]]<ref name="pmid20203157">{{cite journal| author=Fakhouri F, Roumenina L, Provot F, Sallée M, Caillard S, Couzi L et al.| title=Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. | journal=J Am Soc Nephrol | year= 2010 | volume= 21 | issue= 5 | pages= 859-67 | pmid=20203157 | doi=10.1681/ASN.2009070706 | pmc=2865741 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20203157 }} </ref> | |||
* [[Organ transplantation]] | |||
* Other [[medical]] [[conditions]]( [[antiphospholipid syndrome]], [[scleroderma]], [[lupus]]) | |||
==References== | ==References== |
Latest revision as of 03:48, 20 September 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sogand Goudarzi, MD [2], Anila Hussain, MD [3]
Overview
HUS may be classified as typical (caused by Shiga-toxin producing E. coli/ Shigella infection) or atypical (caused by complement factor abnormalities, other viral or bacterial infections, HIV, malignancy, organ transplantation, and rarely SLE and pregnancy related).
Classification
Hemolytic-uremic syndrome (HUS) may be classified as follows:
Typical Or Diarrhea Related
Atypical or Non Diarrheal
Primary Causes
- Complement factor abnormalities
- Complement factor H (CFH) mutation/ factor H deficiency (autosomal dominant)[1]
- Complement factor I (CFI) deficiency (acquired antibody mediated)[2][3]
- Membrane co-factor protein deficiency (MCP, CD46)[4][5]
- Factor B overactivity (complement factor B mutation)[6]
- Diacylglycerol kinase epsilon gene mutations[7]
Secondary Causes
- Infection
- Pneumococcal infection (commonly pneumonia, empyema, meningitis, and less commonly pericarditis, peritonitis, otitis media, and bacteremia)[8]
- HIV
- Other viral or bacterial infections
- Drug associated
- Malignancy
- Pregnancy[9]
- Organ transplantation
- Other medical conditions( antiphospholipid syndrome, scleroderma, lupus)
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.
- ↑ Zhu J, Chaki M, Lu D, Ren C, Wang SS, Rauhauser A; et al. (2016). "Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production". Am J Physiol Renal Physiol. 310 (9): F895–908. doi:10.1152/ajprenal.00431.2015. PMC 4867310. PMID 26887830.
- ↑ Copelovitch, L. & Kaplan, B.S. Pediatr Nephrol (2008) 23: 1951. https://doi.org/10.1007/s00467-007-0518-y
- ↑ Fakhouri F, Roumenina L, Provot F, Sallée M, Caillard S, Couzi L; et al. (2010). "Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations". J Am Soc Nephrol. 21 (5): 859–67. doi:10.1681/ASN.2009070706. PMC 2865741. PMID 20203157.