autoimmune polyglandular 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）』「2014/03/07 12:23:52」(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 organ, 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. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
• 5. 自己免疫性卵巣機能不全の病因、診断、および治療 pathogenesis diagnosis and treatment of autoimmune ovarian failure

English Journal

• The Autoimmune Regulator Prevents Premature Reproductive Senescence in Female Mice.

• Jasti S, Warren BD, McGinnis LK, Kinsey WH, Petroff BK, Petroff MG.AbstractLoss of function mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyglandular syndrome type 1 (APS-1), which commonly manifests as infertility in women. AIRE is a transcriptional regulator that promotes expression of tissue restricted antigens in the thymus, including antigens specific to the ovary. Thymic expression of ovarian genes under AIRE's control may be critical for preventing ovarian autoimmune disease. Because mice lacking Aire are an important APS-1 model, we examined the reproductive properties of female Aire-deficient mice (Aire(-/-)). Female Aire(-/-) mice on the BALB/c background were examined for reproductive parameters, including fertility, litter sizes, and ovarian follicular reserves. Although delayed puberty was observed in Aire(-/-) mice, all mice entered puberty and exhibited mating behavior. Only 50% of Aire(-/-) females gave an initial litter and only 16% were able to produce two litters. Ovarian histopathologic examination revealed that 83% of previously bred females lost all ovarian follicular reserves. Among virgin females, follicular depletion was observed in 25% by 8 wk, and by 20 wk, 50-60% of mice lost all follicles. This was associated with elevated serum follicle stimulating hormone and ovarian infiltration of proliferating CD3+ T lymphocytes. Ovulation rates of 6-wk-old Aire-deficient mice were reduced by 22%, but this difference was not statistically significant. Finally, transplantation experiments revealed that follicular loss depended on ovary-extrinsic factors. These results suggest that immune-mediated ovarian follicular depletion is a mechanism of infertility in Aire-deficient mice. The results have important implications in the pathogenesis of ovarian autoimmune disease in women.
• Biology of reproduction.Biol Reprod.2012 Jan 4. [Epub ahead of print]
• Loss of function mutations in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyglandular syndrome type 1 (APS-1), which commonly manifests as infertility in women. AIRE is a transcriptional regulator that promotes expression of tissue restricted antigens in the thymus, includi
• PMID 22219212

• Coexistence of autoimmune polyglandular syndrome type 2 and diabetes insipidus in pregnancy.

• Krysiak R, Samborek M.SourceDepartment of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland. r.krysiak@interia.pl
• The American journal of the medical sciences.Am J Med Sci.2011 Nov;342(5):433-4.
• Autoimmune polyglandular syndromes are rarely diagnosed conditions characterized by the association of at least 2 organ-specific autoimmune disorders. Very few cases of these syndromes have been described during pregnancy. The authors report a case of a patient diagnosed with autoimmune thyroiditis
• PMID 22033074

• [Chronic autoimmune urticaria as a possible non endocrine manifestation of autoimmune polyglandular syndrome type II].

• Ramos-Prol A, Rubio-Almanza M, Campos-Alborg V, Febrer-Bosch I, Merino-Torres JF.
• Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición.Endocrinol Nutr.2011 Nov;58(9):503-5. Epub 2011 Jul 5.
• PMID 21733764

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

Polyglandular autoimmune (PGA) syndromes (otherwise known as polyglandular failure syndromes) are constellations of multiple endocrine gland insufficiencies. Other descriptive terminologies, such as autoimmune polyendocrine syndrome (APS), also are used in the literature. In the classification of these syndromes ...

• Type III Polyglandular Autoimmune Syndrome

Polyglandular autoimmune syndrome (PAS) is made up of a group of autoimmune disorders of the endocrine glands. [1] The syndrome results in failure of the glands to produce their hormones. Glandular abnormalities of the endocrine system tend to occur together; consequently, up to a quarter of patients with evidence ...

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」「抗グルタミン酸脱炭酸酵素抗体」「APS」
拡張検索	「autoimmune polyglandular syndrome type 1」
関連記事	「syndrome」

「多腺性自己免疫症候群」

　　[★]

英

autoimmune polyglandular syndrome

同

自己免疫性多腺性内分泌異常、多腺性内分泌腺不全症 polyglandular endocrine insufficiency、autoimmune polyendocrine syndrome

• 多腺性自己免疫症候群1型 自己免疫性多腺性内分泌不全症1型：HAM症候群：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：AIRE遺伝子の変異による：若年発症。
• 多腺性自己免疫症候群2型 自己免疫性多腺性内分泌不全症2型：シュミット症候群：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：HLAと関連：成人発症
• 多腺性自己免疫症候群3型 自己免疫性多腺性内分泌不全症3型：自己免疫性甲状腺炎、1型糖尿病：成人発症

参考

• 1. Autoimmune Polyendocrine Syndromes - nejm

http://www.nejm.org/doi/full/10.1056/NEJMra030158

「抗グルタミン酸脱炭酸酵素抗体」

　　[★]

英

anti-glutamic acid decarboxylase antibody

同

抗GAD抗体、GAD抗体

関

グルタミン酸脱炭酸酵素

意義

• 自己免疫性1型糖尿病の診断や発症予測
• 緩徐進行1型糖尿病の診断
• stiff-man症候群、autoimmune polyglandular syndromeの診断(1型糖尿病を発症しない型がある)

基準範囲

• 基準範囲：0-1.5U/ml

1型糖尿病

• 疑診例：10U/ml未満
• 確定例：1型糖尿病

• 一緒に空腹時の血清Cペプチドもはかり、0.5ng/ml未満であればインスリン依存状態である。

「APS」

　　[★]

• 抗リン脂質抗体症候群, anti-phospholipid syndrome, antiphospholipid syndrome
• 急性生理スコア
• 多腺性自己免疫症候群, autoimmune polyglandular syndrome

「autoimmune polyglandular syndrome type 1」

　　[★] 多腺性自己免疫症候群1型

「syndrome」

　　[★]

• n.

• 症候群