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| {{Infobox disease |
| | #REDIRECT[[Autoimmune polyendocrine syndrome pathophysiology #Autoimmune polyendocrine syndrome type 2 (APS type 2)]] |
| Name = Autoimmune polyendocrine syndrome type 1 |
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| Image = |
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| Caption = |
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| DiseasesDB = 29212 |
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| DiseasesDB_mult = |
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| ICD10 = {{ICD10|E|31|0|e|20}} |
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| ICD9 = {{ICD9|258.1}} |
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| ICDO = |
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| OMIM = 240300 |
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| MedlinePlus = |
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| eMedicineSubj = med |
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| eMedicineTopic = 1867 |
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| MeshID = D016884 |
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| }}
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| __NOTOC__
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| {{CMG}}
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| ==Overview==
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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]].
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| ==Signs and symptoms==
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| Its main features include:{{citation needed|date=October 2012}}
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| * 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 dysfunction of the [[parathyroid gland]] (leading to [[hypocalcaemia]]) and the [[adrenal gland]] (Addison's disease: [[hypoglycemia]], [[hypotension]] and severe reactions in disease).
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| * Other disease associations are:
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| ** [[hypothyroidism]]
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| ** [[hypogonadism]] and infertility
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| ** [[vitiligo]] (depigmentation of the skin)
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| ** [[alopecia]] (baldness)
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| ** [[malabsorption]]
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| ** [[pernicious anemia]]
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| ** [[Autoimmune hepatitis|chronic active (autoimmune) hepatitis]]
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| ==Genetics==
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| 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>
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| ==References==
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| {{reflist|2}}
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| ;Further reading
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| * {{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}}
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| * {{cite journal|last1=Peterson|first1=P|last2=Pitakanen|first2=J|last3=Sillanpaa|first3=N|last4=Krohn|first4=K|title=Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED): a model disease to study molecular aspects of endocrine autoimmunity|journal=Clinical and Experimental Immunology|volume=135|issue=3|pages=348–357|doi=10.1111/j.1365-2249.2004.02384.x|pmid=15008965|pmc=1808970|year=2004}}
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| * {{cite journal|last1=Capalbo|first1=Donatella|last2=De Martino|first2=Lucia|last3=Giardino|first3=Giuliana|last4=Di Mase|first4=Raffaella|last5=Di Donato|first5=Iolanda|last6=Parenti|first6=Giancarlo|last7=Vajro|first7=Pietro|last8=Pignata|first8=Claudio|last9=Salerno|first9=Mariacarolina|title=Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation|journal=International Journal of Endocrinology|volume=2012|pages=1–9|doi=10.1155/2012/353250|year=2012}}
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| ==External links==
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| * [http://ghr.nlm.nih.gov/condition/autoimmune-polyglandular-syndrome-type-1 Autoimmune polyglandular syndrome, type 1] on Genetics Home Reference
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| * [http://www.apeced.net EurAPS], a EU-funded consortium doing translational research on this condition
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| {{Endocrine pathology}}
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| {{Hypersensitivity and autoimmune diseases}}
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| [[Category:Autoimmune diseases]]
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