polyglandular autoimmune syndrome

多腺性自己免疫症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. of or relating to the immune response of the body against substance normally present in the body

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/26 15:35:09」(JST)

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Autoimmune polyendocrine syndrome
Classification and external resources
ICD-10	E31.0
ICD-9	258.1
OMIM	240300 269200
DiseasesDB	29212 29690
eMedicine	med/1867 med/1868
MeSH	D016884

In medicine, autoimmune polyendocrine syndromes, also called polyglandular autoimmune syndrome (PGAS), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.

There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.

The syndromes

• Autoimmune polyendocrine syndrome type 1 (APECED or Whitaker's syndrome)
• Autoimmune polyendocrine syndrome type 2 (Schmidt's syndrome)
• The most serious but rarest form is the X-linked polyendocrinopathy, immunodeficiency and diarrhea-syndrome, also called XLAAD (X-linked autoimmunity and allergic dysregulation) or IPEX (immune dysfunction, polyendocrinopathy, and enteropathy, X-linked). This is due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

Other diseases

Other diseases featuring polycrine autoimmunity:

• Chromosomal abnormalities (Down's syndrome) increase the risk of endocrine autoimmunity
• POEMS syndrome - the E is for endocrinopathy; the cause is a paraprotein excreted by a plasmacytoma or multiple myeloma; other features are polyneuropathy, organomegaly (hepatomegaly and splenomegaly), M-protein (paraprotein) and skin changes.
• Several very rare diseases including Lupus and Addison's Disease.

Management

In principle, the component diseases are managed as usual. The challenge is to detect the possibility of any of the above syndromes, and to anticipate other manifestations. For example, in a patient with known Type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase (a feature of Addison's) may prompt early intervention and hydrocortisone replacement to prevent characteristic crises.

References

UpToDate Contents

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• 1. 原発性副腎不全（アジソン病）の原因 causes of primary adrenal insufficiency addisons disease
• 2. 1型糖尿病を有する小児および思春期の患者に関係する自己免疫疾患 associated autoimmune diseases in children and adolescents with type 1 diabetes mellitus
• 3. 自己免疫性副腎不全の病因 pathogenesis of autoimmune adrenal insufficiency
• 4. 尋常性白斑 vitiligo
• 5. 自己免疫性原発性卵巣不全（早発卵巣不全）の臨床的特徴および診断 clinical features and diagnosis of autoimmune primary ovarian insufficiency premature ovarian failure

English Journal

• 1240: ACUTE PERICARDITIS, A RARE PRESENTATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE II (APS II).

• Sedhai YR, Jain S, Asija A, Mohammed A, Mir A, Dar T, Jilani A, Valentino D.
• Critical care medicine.Crit Care Med.2015 Dec;43(12 Suppl 1):312.
• PMID 26570901

• Hyponatremic rhabdomyolysis in Addison's disease in a child with autoimmune polyglandular syndrome type 2.

• Martín-Campagne E1, Ballester-Herrera MJ2, Palomo-Atance E2, Sánchez-Ruiz P3, Giralt-Muiña P2.
• Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion.Endocrinol Nutr.2015 Dec;62(10):511-512. doi: 10.1016/j.endonu.2015.07.001. Epub 2015 Aug 20.
• PMID 26300496

• Hyponatremia in a Teenager: A Rare Diagnosis.

• Correia F1, Fernandes A, Mota TC, Garcia M, Castro-Correia C, Fontoura M, Ribeiro A.
• Pediatric emergency care.Pediatr Emerg Care.2015 Dec;31(12):860-3. doi: 10.1097/PEC.0000000000000633.
• INTRODUCTION: Hyponatremia is a common electrolyte alteration which has the potential for significant morbidity and mortality. Endocrine disorders, such as primary hypothyroidism and adrenal insufficiency are uncommon causes of hyponatremia. We present the case of a teenager with symptomatic hyponat
• PMID 26626895

Japanese Journal

• 多腺性自己免疫症候群2型の1型糖尿病発症に関する考察 : 抗GAD抗体陽性で糖尿病未発症の1例

• 粂川 真里,三輪 隆,高橋 友乃,青木 絵美子,黒田 直孝,小田原 雅人
• 糖尿病 54(7), 499-502, 2011-07-30
• NAID 10029746665

• 1型糖尿病の経過中に食道アカラシアを合併した多腺性自己免疫症候群の一例

• 小林 寛和,安田 尚史,河野 泰博,明嵜 太一,森山 啓明,原 賢太,櫻井 孝,永田 正男,横野 浩一
• 糖尿病 53(12), 829-833, 2010-12-30
• NAID 10027893359

Related Links

• Type I Polyglandular Autoimmune Syndrome

18 Aug 2011 ... Type I Polyglandular Autoimmune Syndrome. Polyglandular autoimmune (PGA) syndromes (otherwise known as polyglandular failure syndromes) are constellations of multiple endocrine gland insufficiencies.

Related Pictures

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★リンクテーブル★

リンク元	「多腺性自己免疫症候群1型」「シュミット症候群」
拡張検索	「polyglandular autoimmune syndrome type II」「polyglandular autoimmune syndrome type 1」「polyglandular autoimmune syndrome type I」
関連記事	「syndrome」

「多腺性自己免疫症候群1型」

　　[★]

英

autoimmune polyendocrine syndrome type 1, autoimmune polyendocrine syndrome type I, polyglandular autoimmune syndrome type 1, polyglandular autoimmune syndrome type I, APS1, APS-1

関

自己免疫性多腺性内分泌不全症、シュミット症候群、多腺性自己免疫症候群2型、HAM症候群

autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy, APECED

[show details]

ja

自己免疫性多腺性内分泌不全症 : 82 件
多腺性自己免疫症候群 : 約 36,100 件
自己免疫性多腺性内分泌不全症1型 : 11 件
多腺性自己免疫症候群1型 : 60 件

ja

多腺性自己免疫症候群1型 : 37 件
多腺性自己免疫症候群I型 : 14 件
多発性内分泌腺不全症1型 : nothing
多発性内分泌腺不全症I型 : 1 件
多腺性自己免疫症候群 : 約 23,100 件
多発性内分泌腺不全症 : 25 件
1型多腺性自己免疫症候群 : 6 件
I型多腺性自己免疫症候群 : nothing

en

polyglandular autoimmune syndrome : 約 20,300 件
polyglandular autoimmune syndrome type 1 : 約 211,000 件
polyglandular autoimmune syndrome type I : 約 165,000 件
autoimmune polyendocrine syndrome : 約 411,000 件
autoimmune polyendocrine syndrome type 1 : 約 246,000 件
autoimmune polyendocrine syndrome type I : 約 159,000 件

概念

• AIRE遺伝子の変異により発症する自己免疫性疾患である。アジソン病、副甲状腺機能低下症、慢性粘膜皮膚カンジダ症(chronic mucocutaneous candidiasis)のうち2-3を合併するのが特徴的である。
• 若年発症する

参考

• 1. AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I; APS1 - OMIM

http://omim.org/240300

• 2. 多腺性自己免疫症候群 1 型と副甲状腺自己抗原 NALP5

http://www.nankodo.co.jp/yosyo/xforeign/nejm/358/358mar/xf358-10-1018.htm

「シュミット症候群」

　　[★]

内分泌/自己免疫疾患

英

Schmidt's syndrome

同

(国試)Schmidt症候群、自己免疫性多腺性内分泌不全症2型, autoimmune polyendocrine syndrome type II, APS2

関

自己免疫性多腺性内分泌不全症 autoimmune polyendocrinopathy、多腺性自己免疫症候群2型 polyglandular autoimmune syndrome PGAII、多腺性自己免疫症候群1型

• 特発性アジソン病　＋　慢性甲状腺炎(橋本病)　ときに、1型糖尿病

参考

• 1. autoimmune polyendocrine syndrome, type II - OMIM

http://omim.org/entry/269200

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神経系の疾患

英

Schmidt syndrome, vago-accessory syndrome 迷走副神経症候群 vagoaccessory syndrome

同

シュミット麻痺

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整形外科/小児科

英

Schmidt syndrome

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「polyglandular autoimmune syndrome type II」

　　[★]

多腺性自己免疫症候群2型

関

autoimmune polyendocrinopathy、polyglandular autoimmune syndrome type I、Schmidt's syndrome

「polyglandular autoimmune syndrome type 1」

　　[★] 多腺性自己免疫症候群1型

「polyglandular autoimmune syndrome type I」

　　[★] 多腺性自己免疫症候群1型

「syndrome」

　　[★]

• n.

• 症候群