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Decreased circulating complement C5 concentration

MedGen UID:
1749074
Concept ID:
C5421577
Finding
Synonym: Decreased serum complement C5
 
HPO: HP:0033060

Definition

Concentration of the complement component C5 in the blood circulation below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased circulating complement C5 concentration

Conditions with this feature

Complement component 5 deficiency
MedGen UID:
91003
Concept ID:
C0343047
Disease or Syndrome
A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.

Recent clinical studies

Etiology

Klapa S, Müller A, Koch A, Kerstein-Stähle A, Kähler W, Heidecke H, Schinke S, Huber-Lang M, Nitschke M, Pitann S, Augustin S, Karsten CM, Riemekasten G, Lamprecht P
Arthritis Rheumatol 2023 May;75(5):760-767. Epub 2023 Feb 22 doi: 10.1002/art.42410. PMID: 36409567
Schilder L, Nurmohamed SA, ter Wee PM, Paauw NJ, Girbes AR, Beishuizen A, Beelen RH, Groeneveld AB
BMC Nephrol 2014 Jan 17;15:19. doi: 10.1186/1471-2369-15-19. PMID: 24438360Free PMC Article
Tian Y, Kijlstra A, van der Veen RL, Makridaki M, Murray IJ, Berendschot TT
PLoS One 2013;8(8):e73387. Epub 2013 Aug 29 doi: 10.1371/journal.pone.0073387. PMID: 24009749Free PMC Article
Hambsch J, Osmancik P, Bocsi J, Schneider P, Tárnok A
Anesthesiology 2002 May;96(5):1078-85. doi: 10.1097/00000542-200205000-00009. PMID: 11981146
Haynes JB, Hyers TM, Giclas PC, Franks JJ, Petty TL
Am Rev Respir Dis 1980 Dec;122(6):841-7. doi: 10.1164/arrd.1980.122.6.841. PMID: 6450559

Diagnosis

Klapa S, Müller A, Koch A, Kerstein-Stähle A, Kähler W, Heidecke H, Schinke S, Huber-Lang M, Nitschke M, Pitann S, Augustin S, Karsten CM, Riemekasten G, Lamprecht P
Arthritis Rheumatol 2023 May;75(5):760-767. Epub 2023 Feb 22 doi: 10.1002/art.42410. PMID: 36409567
Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Zou QM, Li XH, Song RX, Xu NP, Zhang T, Zhang MM, Lin Y, Shi L, Fu J, Cui XD
Pediatr Res 2015 Aug;78(2):205-11. Epub 2015 May 4 doi: 10.1038/pr.2015.81. PMID: 25938736
Welch TR
Nephron 2001 Jul;88(3):199-204. doi: 10.1159/000045990. PMID: 11423749
Tárnok A, Hambsch J, Emmrich F, Sack U, van Son J, Bellinghausen W, Borte M, Schneider P
Pediatr Cardiol 1999 Mar-Apr;20(2):113-25. doi: 10.1007/s002469900417. PMID: 9986887

Therapy

Schilder L, Nurmohamed SA, ter Wee PM, Paauw NJ, Girbes AR, Beishuizen A, Beelen RH, Groeneveld AB
BMC Nephrol 2014 Jan 17;15:19. doi: 10.1186/1471-2369-15-19. PMID: 24438360Free PMC Article
Tian Y, Kijlstra A, van der Veen RL, Makridaki M, Murray IJ, Berendschot TT
PLoS One 2013;8(8):e73387. Epub 2013 Aug 29 doi: 10.1371/journal.pone.0073387. PMID: 24009749Free PMC Article
Hambsch J, Osmancik P, Bocsi J, Schneider P, Tárnok A
Anesthesiology 2002 May;96(5):1078-85. doi: 10.1097/00000542-200205000-00009. PMID: 11981146
Cole L, Bellomo R, Hart G, Journois D, Davenport P, Tipping P, Ronco C
Crit Care Med 2002 Jan;30(1):100-6. doi: 10.1097/00003246-200201000-00016. PMID: 11902250
Bengtsson A, Svalander CT, Mölne J, Rydberg L, Breimer ME
Xenotransplantation 1998 Aug;5(3):176-83. doi: 10.1111/j.1399-3089.1998.tb00025.x. PMID: 9741455

Prognosis

Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Hambsch J, Osmancik P, Bocsi J, Schneider P, Tárnok A
Anesthesiology 2002 May;96(5):1078-85. doi: 10.1097/00000542-200205000-00009. PMID: 11981146
Castell LM, Poortmans JR, Leclercq R, Brasseur M, Duchateau J, Newsholme EA
Eur J Appl Physiol Occup Physiol 1997;75(1):47-53. doi: 10.1007/s004210050125. PMID: 9007457
Camus G, Duchateau J, Deby-Dupont G, Pincemail J, Deby C, Juchmès-Ferir A, Feron F, Lamy M
Int J Sports Med 1994 Jan;15(1):32-5. doi: 10.1055/s-2007-1021016. PMID: 8163323

Clinical prediction guides

Agostinis C, Stampalija T, Tannetta D, Loganes C, Vecchi Brumatti L, De Seta F, Celeghini C, Radillo O, Sargent I, Tedesco F, Bulla R
Am J Reprod Immunol 2016 Dec;76(6):475-481. Epub 2016 Sep 26 doi: 10.1111/aji.12586. PMID: 27666323
Tian Y, Kijlstra A, van der Veen RL, Makridaki M, Murray IJ, Berendschot TT
PLoS One 2013;8(8):e73387. Epub 2013 Aug 29 doi: 10.1371/journal.pone.0073387. PMID: 24009749Free PMC Article
Cole L, Bellomo R, Hart G, Journois D, Davenport P, Tipping P, Ronco C
Crit Care Med 2002 Jan;30(1):100-6. doi: 10.1097/00003246-200201000-00016. PMID: 11902250
Camus G, Duchateau J, Deby-Dupont G, Pincemail J, Deby C, Juchmès-Ferir A, Feron F, Lamy M
Int J Sports Med 1994 Jan;15(1):32-5. doi: 10.1055/s-2007-1021016. PMID: 8163323
Kottke-Marchant K, Anderson JM, Miller KM, Marchant RE, Lazarus H
J Biomed Mater Res 1987 Mar;21(3):379-97. doi: 10.1002/jbm.820210310. PMID: 2951388

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