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词条 Complement deficiency
释义

  1. Signs/symptoms

     Complications 

  2. Causes

     Inherited  Acquired 

  3. Mechanism

  4. Diagnosis

     Types 

  5. Treatment

  6. Epidemiology

  7. See also

  8. References

  9. Further reading

  10. External links

{{Infobox medical condition (new)
| name = Complement deficiency
| image = Complement pathway.svg
| caption = Complement pathway (normal)
| pronounce =
| field =
| synonyms =
| symptoms =
| complications =
| onset =
| duration =
| types =
| causes = Deficiency can be inherited or acquired.[1]
| risks =
| diagnosis = CH50 measurement, Plasma level[2]
| differential =
| prevention =
| treatment = Immunosuppressive therapy [1]
| medication =
| prognosis =
| frequency =
| deaths =
}}Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins.[1] Because there are redundancies in the immune system, many complement disorders are never diagnosed, some studies estimated that less than 10% are identified.[2] Hypocomplementemia may be used more generally to refer to decreased complement levels[3] while secondary complement disorder means decreased complement levels that are not directly due to a genetic cause but secondary to another medical condition.[4]

Signs/symptoms

The following symptoms (signs) are consistent with complement deficiency in general:[5][6][7]

{{columns-list|colwidth=30em|
  • Recurring infection
  • Auto-immune disorders
  • Glomerulonephritis
  • Joint problems (manifestation)
  • Lung function (MBL variant alleles)
  • Angioedema
  • Dermatomyositis
  • Vasculitis
  • Anaphylactoid purpura

}}

Complications

Vaccinations for encapsulated organisms (e.g., Neisseria meningitidis and Streptococcus pneumoniae) is crucial for preventing infections in complement deficiencies.{{medical citation needed|date=September 2016}} Among the possible complications are the following:

  • Deficiencies of the terminal complement components increases susceptibility to infections by Neisseria.[8]

Causes

The cause of complement deficiency is genetics (though cases of an acquired nature do exist post infection). The majority of complement deficiencies are autosomal recessive, while properdin deficiency could be X-linked inheritance, and finally MBL deficiency can be both.[1]

Inherited

  • Properdin deficiency is an X-linked[9] disorder that also causes susceptibility to Neisseria infections.[1]
  • C1-inhibitor deficiency or hereditary angioedema will have low C4 with normal C1 levels.[10]

Acquired

Acquired hypocomplementemia may occur in the setting of bone infections (osteomyelitis), infection of the lining of the heart (endocarditis), and cryoglobulinemia. Systemic lupus erythematosus is associated with low C3 and C4[11] Membranoproliferative glomerulonephritis usually has low C3.[12]

Mechanism

The mechanism of complement deficiency consists of:

  • C2: In regard to C2 deficiency, about 5 different mutations in the C2 gene are responsible. In turn, immune function decreases and infection opportunities increase. One of the most common mutations deletes 28 DNA nucleotides from the C2 gene. Therefore, no C2 protein which can help make C3-convertase is produced. Ultimately, this delays/decreases immune response.[13]
  • C3: In terms of deficiency of C3, it has been found that 17 mutations in the C3 gene cause problems with C3. This rare condition mutates or prevents C3 protein from forming, lowering the immune system's ability to protect.[14]
  • C4: C4 deficiency is highly associated with systemic lupus erythematosus.[2] Aβ42, a protein involved in Alzheimer's disease, can cause activation of C4 (even in plasma deficient of C1q).[15] At least one study indicates that the genetic variation of C4 plays a role in schizophrenia.[16]
{{clear}}

Diagnosis

{{Complement test comparisons|align=right}}

Among the diagnostic tests that can be done in determining if an individual has complement deficiencies is:[17]

  • CH50 measurement
  • Immunochemical methods/test
  • C3 deficiency screening
  • Mannose-binding lectin (lab study)
  • Plasma levels/regulatory proteins (lab study)

Types

  • Disorders of the proteins that act to inhibit the complement system (such as C1-inhibitor) can lead to an overactive response, causing conditions such as hereditary angioedema[18]
  • Disorders of the proteins that act to activate the complement system (such as C3) can lead to an underactive response, causing greater susceptibility to infections.[19]

Treatment

In terms of management for complement deficiency, immunosuppressive therapy should be used depending on the disease presented. A C1-INH concentrate can be used for angio-oedema (C1-INH deficiency).[5][1]

Pneumococcus and haemophilus infections prevention can be taken via immunization for those with complement deficiency.[1] Epsilon-aminocaproic acid could be used to treat hereditary C1-INH deficiency, though the possible side effect of intravascular thrombosis should be weighed.[4]

Epidemiology

C2 deficiency has a prevalence of 1 in about 20,000 people in Western countries.[20]

See also

  • Paroxysmal nocturnal hemoglobinuria

References

1. ^{{cite book |first1=Jerry A. |last1=Winkelstein |chapter=The Complement System |pages=8–13 |editor1-first=Sherwood L. |editor1-last=Gorbach |editor2-first=John G. |editor2-last=Bartlett |editor3-first=Neil R. |editor3-last=Blacklow |title=Infectious Diseases |year=2004 |publisher=Lippincott Williams & Wilkins |isbn=978-0-7817-3371-7}}
2. ^{{cite journal |doi=10.1016/j.molimm.2005.06.025 |pmid=16026838 |title=Complement deficiency and disease: An update |journal=Molecular Immunology |volume=43 |issue=1–2 |pages=78–85 |year=2006 |last1=Sjöholm |first1=A.G. |last2=Jönsson |first2=G. |last3=Braconier |first3=J.H. |last4=Sturfelt |first4=G. |last5=Truedsson |first5=L. }}{{Subscription or libraries|sentence|via=ScienceDirect}}
3. ^{{cite book|last1=(ed.)|first1=Larry W. Moreland|title=Rheumatology and immunology therapy : a to Z essentials|date=2004|publisher=Springer|location=Berlin|isbn=9783540206255|page=425|edition=[1st ed.].|url=https://books.google.com/?id=GiR493YLsgsC&pg=PA425&dq=hypocomplementemia+definition#v=onepage&q=hypocomplementemia%20definition&f=false|accessdate=30 August 2016|language=en}}
4. ^1 {{EMedicine|article|136368|Complement-Related Disorders}}
5. ^1 {{cite web|title=Complement Deficiency Clinical Presentation: History, Physical, Causes|url=http://emedicine.medscape.com/article/886128-clinical#showall|website=emedicine.medscape.com|publisher=Medscape|accessdate=21 September 2016}}
6. ^{{cite book|last1=Barone|first1=[edited by] Michael Crocetti, Michael A.|last2=Barone|first2=Michael A.|last3=Oski|first3=Frank A.|title=Oski's Essential pediatrics|date=2004|publisher=Lippincott Williams & Wilkins|location=Philadelphia|isbn=9780781737708|page=670|edition=2.|url=https://books.google.com/?id=I3Kh1cNJxyUC&pg=PA670&dq=complement+deficiency#v=onepage&q=complement%20deficiency&f=false|accessdate=21 September 2016|language=en}}
7. ^{{cite journal|last1=Pettigrew|first1=H. David|last2=Teuber|first2=Suzanne S.|last3=Gershwin|first3=M. Eric|title=Clinical Significance of Complement Deficiencies|journal=Annals of the New York Academy of Sciences|date=September 2009|volume=1173|issue=1|pages=108–123|doi=10.1111/j.1749-6632.2009.04633.x|pmid=19758139|language=en|issn=1749-6632|bibcode=2009NYASA1173..108P}}
8. ^{{cite book|last1=editors|first1=Asghar Aghamohammadi, Nima Rezaei|last2=Rezaei|first2=Nima|title=Clinical cases in primary immunodeficiency diseases a problem-solving approach|date=2012|publisher=Springer|location=Berlin|isbn=9783642317859|page=334|url=https://books.google.com/?id=IftYOIDjQbcC&pg=PA334&dq=terminal+complement+components+Neisseria.#v=onepage&q=terminal%20complement%20components%20Neisseria.&f=false|accessdate=21 September 2016|language=en}}
9. ^{{cite web|title=OMIM Entry - # 312060 - PROPERDIN DEFICIENCY, X-LINKED; CFPD|url=http://omim.org/entry/312060|website=omim.org|accessdate=21 September 2016}}
10. ^{{cite journal|last1=Gower|first1=Richard G|last2=Busse|first2=Paula J|last3=Aygören-Pürsün|first3=Emel|last4=Barakat|first4=Amin J|last5=Caballero|first5=Teresa|last6=Davis-Lorton|first6=Mark|last7=Farkas|first7=Henriette|last8=Hurewitz|first8=David S|last9=Jacobs|first9=Joshua S|last10=Johnston|first10=Douglas T|last11=Lumry|first11=William|last12=Maurer|first12=Marcus|title=Hereditary Angioedema Caused By C1-Esterase Inhibitor Deficiency: A Literature-Based Analysis and Clinical Commentary on Prophylaxis Treatment Strategies|journal=The World Allergy Organization Journal|date=15 February 2011|volume=4|issue=Suppl 2|pages=S9–S21|doi=10.1097/1939-4551-4-S2-S9|pmc=3666183|issn=1939-4551|pmid=23283143}}
11. ^{{cite web|title=Systemic Lupus Erythematosus. Lupus treatment; information {{!}} Patient|url=http://patient.info/doctor/systemic-lupus-erythematosus-pro|website=Patient|accessdate=21 September 2016}}
12. ^{{cite web|title=Membranoproliferative Glomerulonephritis: Background, Pathophysiology, Etiology|url=http://emedicine.medscape.com/article/240056-overview|website=Medscape|accessdate=21 September 2016}}
13. ^{{cite web|last1=Reference|first1=Genetics Home|title=C2 gene|url=https://ghr.nlm.nih.gov/gene/C2#conditions|website=Genetics Home Reference|accessdate=21 September 2016}}
14. ^{{cite web|last1=Reference|first1=Genetics Home|title=C3 gene|url=https://ghr.nlm.nih.gov/gene/C3#conditions|website=Genetics Home Reference|accessdate=21 September 2016}}
15. ^{{cite journal|last1=Kolev|first1=Martin V|last2=Ruseva|first2=Marieta M|last3=Harris|first3=Claire L|last4=Morgan|first4=B. Paul|last5=Donev|first5=Rossen M|title=Implication of Complement System and its Regulators in Alzheimer's Disease|journal=Current Neuropharmacology|date=1 March 2009|volume=7|issue=1|pages=1–8|doi=10.2174/157015909787602805|pmc=2724661|issn=1570-159X|pmid=19721814}}
16. ^{{Cite journal|last=Sekar|first=Aswin|last2=Bialas|first2=Allison R.|last3=de Rivera|first3=Heather|last4=Davis|first4=Avery|last5=Hammond|first5=Timothy R.|last6=Kamitaki|first6=Nolan|last7=Tooley|first7=Katherine|last8=Presumey|first8=Jessy|last9=Baum|first9=Matthew|date=2016-02-11|title=Schizophrenia risk from complex variation of complement component 4|journal=Nature|volume=530|issue=7589|pages=177–183|doi=10.1038/nature16549|issn=0028-0836|pmc=4752392|pmid=26814963|bibcode=2016Natur.530..177.}}
17. ^1 2 {{cite web|title=Complement Deficiencies Clinical Presentation: History, Physical, Causes|url=http://emedicine.medscape.com/article/135478-clinical#showall|website=emedicine.medscape.com|accessdate=21 September 2016}}
18. ^{{cite journal|last1=Davis|first1=Alvin E.|last2=Mejia|first2=Pedro|last3=Lu|first3=Fengxin|title=BIOLOGICAL ACTIVITIES OF C1 INHIBITOR|journal=Molecular Immunology|date=1 October 2008|volume=45|issue=16|pages=4057–4063|doi=10.1016/j.molimm.2008.06.028|pmc=2626406|issn=0161-5890|pmid=18674818}}
19. ^{{cite journal|last1=Ram|first1=S.|last2=Lewis|first2=L. A.|last3=Rice|first3=P. A.|title=Infections of People with Complement Deficiencies and Patients Who Have Undergone Splenectomy|journal=Clinical Microbiology Reviews|date=7 October 2010|volume=23|issue=4|pages=740–780|doi=10.1128/CMR.00048-09|pmc=2952982|issn=0893-8512|pmid=20930072}}
20. ^1 2 3 4 5 6 {{Cite web|url=https://patient.info/doctor/complement-deficiencies|title=Complement Deficiencies. What are complement deficiencies?|website=patient.info|language=en-GB|access-date=2017-12-31}}

Further reading

  • {{cite journal|last1=Botto|first1=Marina|title=Links between complement deficiency and apoptosis|journal=Arthritis Research & Therapy|date=1 January 2001|volume=3|issue=4|pages=207–210|doi=10.1186/ar301|pmid=11438036|issn=1478-6362|pmc=128896}}
  • {{cite book|last1=Aghamohammadi|first1=Asghar|last2=Rezaei|first2=Nima|title=Clinical cases in primary immunodeficiency diseases a problem-solving approach|date=2012|publisher=Springer|location=Berlin|isbn=9783642317859|url=https://books.google.com/?id=IftYOIDjQbcC&pg=PA334&dq=terminal+complement+components+Neisseria.#v=onepage&q=terminal%20complement%20components%20Neisseria.&f=false|accessdate=21 September 2016|language=en}}

External links

{{Medical resources
| DiseasesDB = 1847
| ICD10 ={{ICD10|D|84|1|d|80}}
| ICD9 = {{ICD9|279.8}}
| ICDO =
| OMIM = 217000
| OMIM_mult = {{OMIM2|120820}}, {{OMIM2|120900}}, {{OMIM2|610102}}
| MedlinePlus =
| eMedicineSubj = med
| eMedicineTopic = 419
| eMedicine_mult = {{eMedicine2|ped|447}}
| MeshID =
}}{{Lymphoid and complement immunodeficiency}}{{Medicine}}{{Use dmy dates|date=April 2017}}

3 : Noninfectious immunodeficiency-related cutaneous conditions|Complement deficiency|Syndromes
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