Autoimmune polyendocrine syndrome type 1: Difference between revisions

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{{Infobox disease |
  Name          = Autoimmune polyendocrine syndrome type 1 |
  Image          = |
  Caption        = |
  DiseasesDB    = 29212 |
  DiseasesDB_mult = |
  ICD10          = {{ICD10|E|31|0|e|20}} |
  ICD9          = {{ICD9|258.1}} |
  ICDO          = |
  OMIM          = 240300 |
  MedlinePlus    = |
  eMedicineSubj  = med |
  eMedicineTopic = 1867 |
  MeshID        = D016884 |
}}
__NOTOC__
__NOTOC__
{{CMG}}
{{CMG}}
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'''Autoimmune polyendocrine syndrome type 1''' ('''APS-1'''), also known as '''autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy''' ('''APECED'''), '''Whitaker syndrome''',<ref>{{cite web|url=http://emedicine.medscape.com/article/124183-overview|title=Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology|publisher=Medscape|accessdate=2009-04-17}}</ref> or '''[[candidiasis]]-[[hypoparathyroidism]]-[[Addison's disease]]-syndrome''',<ref name="greenspan">{{Cite book | author=Greenspan, Francis S.; Gardner, David C. | authorlink= | title=Basic  clinical endocrinology | year=2004 | publisher=McGraw-Hill | location=New York  | isbn=0-07-140297-7 | pages=103}}</ref> is a subtype of [[autoimmune polyendocrine syndrome]], in which multiple [[endocrine gland]]s dysfunction as a result of [[autoimmunity]]. It is a [[genetic disorder]] inherited in autosomal [[recessive]] fashion due to a defect in the ''[[autoimmune regulator|AIRE]]'' (Auto immune regulator) gene which is located on chromosome 21 and normally confers [[immune tolerance]].
'''Autoimmune polyendocrine syndrome type 1''' ('''APS-1'''), also known as '''autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy''' ('''APECED'''), '''Whitaker syndrome''',<ref>{{cite web|url=http://emedicine.medscape.com/article/124183-overview|title=Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology|publisher=Medscape|accessdate=2009-04-17}}</ref> or '''[[candidiasis]]-[[hypoparathyroidism]]-[[Addison's disease]]-syndrome''',<ref name="greenspan">{{Cite book | author=Greenspan, Francis S.; Gardner, David C. | authorlink= | title=Basic  clinical endocrinology | year=2004 | publisher=McGraw-Hill | location=New York  | isbn=0-07-140297-7 | pages=103}}</ref> is a subtype of [[autoimmune polyendocrine syndrome]], in which multiple [[endocrine gland]]s dysfunction as a result of [[autoimmunity]]. It is a [[genetic disorder]] inherited in autosomal [[recessive]] fashion due to a defect in the ''[[autoimmune regulator|AIRE]]'' (Auto immune regulator) gene which is located on chromosome 21 and normally confers [[immune tolerance]].


==Signs and symptoms==
==Historical Perspective==
 
==Classification==
 
==Pathophysiology==
===Genetics===
It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.<ref name="pmid12843157">{{cite journal|last1=Buzi|first1=F|last2=Badolato|first2=R|last3=Mazza|first3=C|last4=Giliani|first4=S|last5=Notarangelo|first5=LD|last6=Radetti|first6=G|last7=Plebani|first7=A|last8=Notarangelo|first8=LD|title=Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?|journal=The Journal of clinical endocrinology and metabolism|date=Jul 2003|volume=88|issue=7|pages=3146–8|pmid=12843157}}</ref>
 
==Causes==
 
==Differentiating Autoimmune Polyendocrine Syndrome Type 1 from other Diseases==
 
==Epidemiology and Demographics==
===Age===
===Gender===
===Race===
 
==Risk Factors==
 
==Natural History, Complications and Prognosis==
 
==Diagnosis==
===Diagnostic Criteria===
===Symptoms===
Its main features include:{{citation needed|date=October 2012}}
Its main features include:{{citation needed|date=October 2012}}
* A mild [[immune deficiency]], leading to persistent mucosal and cutaneous infections with [[Candida (genus)|candida]] yeasts. There is also decreased function of the [[spleen]] (hyposplenism).
* A mild [[immune deficiency]], leading to persistent mucosal and cutaneous infections with [[Candida (genus)|candida]] yeasts. There is also decreased function of the [[spleen]] (hyposplenism).
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** [[Autoimmune hepatitis|chronic active (autoimmune) hepatitis]]
** [[Autoimmune hepatitis|chronic active (autoimmune) hepatitis]]


==Genetics==
===Physical Examination===
It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.<ref name="pmid12843157">{{cite journal|last1=Buzi|first1=F|last2=Badolato|first2=R|last3=Mazza|first3=C|last4=Giliani|first4=S|last5=Notarangelo|first5=LD|last6=Radetti|first6=G|last7=Plebani|first7=A|last8=Notarangelo|first8=LD|title=Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?|journal=The Journal of clinical endocrinology and metabolism|date=Jul 2003|volume=88|issue=7|pages=3146–8|pmid=12843157}}</ref>
 
===Laboratory Findings===
 
===Imaging Findings===
 
===Other Diagnostic Studies===
 
==Treatment==
 
===Medical Therapy===
 
===Surgery===
 
===Prevention===
 


==References==
==References==
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{{Hypersensitivity and autoimmune diseases}}
{{Hypersensitivity and autoimmune diseases}}


[[Category:Autoimmune diseases]]
[[Category:Needs content]]
[[Category:Rheumatology]]

Revision as of 16:08, 1 July 2016

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome,[1] or candidiasis-hypoparathyroidism-Addison's disease-syndrome,[2] is a subtype of autoimmune polyendocrine syndrome, in which multiple endocrine glands dysfunction as a result of autoimmunity. It is a genetic disorder inherited in autosomal recessive fashion due to a defect in the AIRE (Auto immune regulator) gene which is located on chromosome 21 and normally confers immune tolerance.

Historical Perspective

Classification

Pathophysiology

Genetics

It is caused in autosomal recessive manner due to a defect in AIRE gene mapped to 21q22.3.[3]

Causes

Differentiating Autoimmune Polyendocrine Syndrome Type 1 from other Diseases

Epidemiology and Demographics

Age

Gender

Race

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

Symptoms

Its main features include:[citation needed]

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

  1. ↑ "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". Medscape. Retrieved 2009-04-17.
  2. ↑ Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
  3. ↑ Buzi, F; Badolato, R; Mazza, C; Giliani, S; Notarangelo, LD; Radetti, G; Plebani, A; Notarangelo, LD (Jul 2003). "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?". The Journal of clinical endocrinology and metabolism. 88 (7): 3146–8. PMID 12843157.
Further reading

External links

Template:Hypersensitivity and autoimmune diseases

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