- 同
- AT-III
WordNet
- the 9th letter of the Roman alphabet (同)i
PrepTutorEJDIC
- 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
- 『私は』私が
- iodineの化学記号
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/29 18:52:45」(JST)
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Antithrombin III deficiency |
Classification and external resources |
ICD-10 |
D68.8 |
ICD-9 |
289.81 |
OMIM |
613118 |
DiseasesDB |
783 |
eMedicine |
ped/119 |
MeSH |
D020152 |
Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. It is a rare hereditary disorder that generally comes to light when a patient suffers recurrent venous thrombosis and pulmonary embolism, and repetitive intrauterine fetal death (IUFD).[1] Inheritance is usually autosomal dominant, though a few recessive cases have been noted.[2]
The disorder was first described by Egeberg in 1965.[3]
The patients are treated with anticoagulants or, more rarely, with antithrombin concentrate.
In kidney failure, especially nephrotic syndrome, antithrombin is lost in the urine, leading to a higher activity of Factor II and Factor X and in increased tendency to thrombosis.
Contents
- 1 Heparin resistance
- 2 See also
- 3 References
- 4 External links
Heparin resistance
Heparin enhances ATIII activity and neutralizes "activated serine protease coagulation factors."[4] Patients with ATIII deficiency requiring anticoagulant therapy with heparin will need higher doses of heparin. ATIII binds to thrombin and then forms the thrombin-anti thrombin complex or TAT complex. This is a major natural pathway of anticoagulation. This binding of thrombin to AT is greatly enhanced in the presence of heparin. Heparin does not affect vitamin K epoxide, an enzyme required for the reduction of vitamin K, so giving vitamin K1 (Phytonadione) will not reverse the effects of heparin. [5]
Heparin is used in bridge therapy when initiating a patient on warfarin when in a hospital setting. It can be used in DVT prophylaxis and treatment, acute coronary syndromes, and ST-segment elevated MI.
See also
References
- ^ Editor: Robert J Kurman, Blaustein's Pathology of the Female Genital Tract, Fifth Edition, 2002, Ch. 23, Diseases of the Placenta, p. 1136-7.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 107300
- ^ Egeberg O. (1965) "Inherited antithrombin deficiency causing thrombophilia". Thromb Diath Haemorrh. 13:516-520. PMID 14347873.
- ^ Edward F. Goljan (2011). Pathology. Mosby/Elsevier. p. 251. ISBN 9780323084383. Retrieved 24 August 2014.
- ^ Basic and Clinical Pharmacolgy, Lange, 12th ed
External links
- Information on antithrombin from UIUC
- Non-profit advocacy group for patients and families with antithrombin deficiency
Diseases of RBCs and megakaryocytes / MEP (D50–69,74, 280–287)
|
|
Red
blood cells |
↑ |
|
|
↓ |
Anemia |
Nutritional |
- Micro-: Iron-deficiency anemia
- Macro-: Megaloblastic anemia
|
|
Hemolytic
(mostly normo-) |
Hereditary |
- enzymopathy: G6PD
- glycolysis
- hemoglobinopathy: Thalassemia
- Sickle-cell disease/trait
- HPFH
- membrane: Hereditary spherocytosis
- Minkowski–Chauffard syndrome
- Hereditary elliptocytosis
- Southeast Asian ovalocytosis
- Hereditary stomatocytosis
|
|
Acquired |
- Drug-induced autoimmune
- Drug-induced nonautoimmune
- Hemolytic disease of the newborn
|
|
|
Aplastic
(mostly normo-) |
- Hereditary: Fanconi anemia
- Diamond–Blackfan anemia
- Acquired: PRCA
- Sideroblastic anemia
- Myelophthisic
|
|
Blood tests |
- MCV
- Normocytic
- Microcytic
- Macrocytic
- MCHC
|
|
|
Other |
- Methemoglobinemia
- Sulfhemoglobinemia
- Reticulocytopenia
|
|
|
|
Coagulation/
coagulopathy |
↑ |
Hyper-
coagulability |
- primary: Antithrombin III deficiency
- Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden
- Prothrombin G20210A
- Sticky platelet syndrome
- acquired:Thrombocytosis
- DIC
- Congenital afibrinogenemia
- Purpura fulminans
- autoimmune
|
|
|
↓ |
Hypo-
coagulability |
Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- TTP
- Upshaw Schulman syndrome
- Heparin-induced thrombocytopenia
- May–Hegglin anomaly
|
|
Platelet function |
- adhesion
- aggregation
- Glanzmann's thrombasthenia
- platelet storage pool deficiency
- Hermansky–Pudlak syndrome
- Gray platelet syndrome
|
|
Clotting factor |
- Hemophilia
- von Willebrand disease
- Hypoprothrombinemia/II
- XIII
- Dysfibrinogenemia
|
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|
|
|
Index of cells from bone marrow
|
|
Description |
- Immune system
- Cells
- Physiology
- coagulation
- proteins
- granule contents
- colony-stimulating
- heme and porphyrin
|
|
Disease |
- Red blood cell
- Monocyte and granulocyte
- Neoplasms and cancer
- Histiocytosis
- Symptoms and signs
- Blood tests
|
|
Treatment |
- Transfusion
- Drugs
- thrombosis
- bleeding
- other
|
|
|
Disorders of globin and globulin proteins
|
|
Globin |
- Hemoglobinopathy
- Thalassemia
- alpha
- beta
- delta
- Sickle-cell disease
- HPFH
|
|
Globulin |
|
|
Serpin |
- Serpinopathy: Alpha 1-antitrypsin deficiency
- Antithrombin III deficiency
- Hereditary angioedema
- FENIB
|
|
- See also
- globular proteins
- globins
- antibodies
- serpins
Index of cells
|
|
Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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English Journal
- Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.
- Deng H, Shen W, Gu Y, Ma X, Zhang J, Zhang L.SourceDepartment of Vascular Surgery, Shanghai JiaoTong University School of Medicine Renji Hospital, Shanghai, 200127, People's Republic of China.
- Journal of thrombosis and thrombolysis.J Thromb Thrombolysis.2012 Apr 26. [Epub ahead of print]
- Antithrombin is a plasma protein critical to the regulation of coagulation. It plays a pivotal anticoagulant role by preventing the activation of procoagulant proteinases. Inherited and (or) acquired deficiency of AT is an established risk factor for venous thromboembolism. Sequencing analysis of SE
- PMID 22535529
- Association of thrombophilia and polycystic ovarian syndrome in women with history of recurrent pregnancy loss.
- Moini A, Tadayon S, Tehranian A, Yeganeh LM, Akhoond MR, Yazdi RS.SourceDepartment of Obstetrics and Gynecology, Faculty of Medicine, Tehran University of Medical Sciences , Tehran , Iran.
- Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2012 Mar 28. [Epub ahead of print]
- Purpose: To evaluate the prevalence of thrombophilic disorders in polycystic ovarian syndrome (PCOS) women with history of recurrent pregnancy loss (RPL). Materials and methods: This study was carried out in 184 women with history of RPL, of which 92 of them were diagnosed with PCOS and 92 patients
- PMID 22452370
Japanese Journal
- アンチトロンビンIII欠乏症による多発性静脈血栓症の1例
- 長崎 和仁,大住 幸司,朝見 淳規,窪地 淳,尾原 秀明,北川 雄光
- 日本臨床外科学会雑誌 = The journal of the Japan Surgical Association 72(6), 1378-1382, 2011-06-25
- NAID 10029612193
- 急性上腸間膜静脈血栓症を発症した先天性アンチトロンビンIII欠乏症の1例
- 杉原 正大,松川 啓義,藤原 康宏,塩崎 滋弘,大野 聡,二宮 基樹
- 日本臨床外科学会雑誌 = The journal of the Japan Surgical Association 72(2), 494-499, 2011-02-25
- NAID 10028121426
Related Links
- 1 Aug 2011 ... Antithrombin III (ATIII) is a potent inhibitor of the coagulation cascade. It is a nonvitamin K-dependent protease that inhibits coagulation by lysing thrombin and factor Xa. Antithrombin III activity is markedly potentiated by ...
- 10 Jan 2012 ... A homozygous type of antithrombin deficiency (antithrombin III Kumamoto) has been reported to be present in a family with consanguinity. It was shown to be associated with arterial thrombotic disease. The patient developed ...
Related Pictures
★リンクテーブル★
[★]
- 英
- deep venous thrombosis DVT, deep vein thrombosis
- 同
- 深部静脈血栓、静脈血栓症
- 関
- 末梢静脈疾患、下肢深部静脈血栓症
概念
リスクファクター
- リスク評価はWells scoreを使う。
PHD.366
-
SAN.378
- 血栓性素因
- 静脈血栓症の既往
- 肺塞栓症の既往
- 年齢(60歳以上)
- 長期臥床(4日以上)
- 肥満(肥満度BMI25以上)
- 悪性腫瘍
- 下肢静脈瘤
- 多発外傷
- 全身麻酔
- 3時間以上の手術
- 開腹術
- 人工股関節置換術、膝関節置換術
- 気腹手術、開腹下骨盤手術
- 静脈還流を阻害する体位(骨盤低位、側臥位など)
- 血栓性素因:後天性抗リン脂質抗体症候群、先天性アンチトロンビン欠損、プロテインC欠損、プロテインS欠損、第V因子異常、プラスミノゲン以上、異常フィブリノゲン血症、第XII因子欠損、組織プラスミノゲン活性化因子インヒビタ増加、トロンボモジュリン異常など
- 参考2
- 疾患別に見るとDVTでもPTEでも卵巣癌が最多で、子宮体癌がこれに次ぐ。術前発症では卵巣癌が最多である。卵巣癌の術前にDVTがおおいのは多量腹水による脱水、自宅での安静、腫瘍細胞数が非常に多い、腫瘍細胞が放出する組織因子が多いなどによる。卵巣後の術後では、根治術では手術時間が長く、侵襲度が高い、リンパ節郭清を要する、多量の輸血が必要なことが多い、また長期にわたる化学療法を要するなどによる。
リスク評価
DVTの検査前確率
- 活動性の癌
- 麻痺、足が動かない
- ベット上臥床(>3日)、または大手術(<4週)
- 静脈に沿い限局した疼痛
- 大腿/腓腹筋の腫脹
- 無症状側と比較して>3cmの腓腹筋腫脹
- DVTの家族歴(第一度近親者で≧2人)
- 60日以内の症状ある足への外傷
- 有症状の下肢における圧痕性浮腫
- 有症状の下肢のみの表在静脈拡張
- 最近6ヶ月以内の入院
- 紅斑
高確率85%
- 大項目≧3+他の診断なし
- 大項目≧2+小項目≧2+他の診断なし
中等度の確率33%
低確率5%
- 大項目1+小項目≧2+他の診断あり
- 大項目1+小項目≧1+他の診断なし
- 大項目0+小項目≧3+他の診断あり
- 大項目0+小項目≧2+他の診断なし
身体所見
- evidence-based physical diagnosis 3rd edition p.473
予防
産婦人科
- 参考2
- 早期離床、ベッド上での下肢挙上・膝の屈伸・足の背屈運動、弾性ストッキング着用、間欠的空気圧迫法、脱水予防
- 未分画ヘパリン5,000単位を術後6~12時間以内に(止血を確認できたら術直後からでも可)1日2回皮下注/静注、3-5日投与
ガイドライン
- 肺血栓塞栓症および深部静脈血栓症の診断、治療、予防に関するガイドライン(2009年改訂版)
- http://www.j-circ.or.jp/guideline/pdf/JCS2009_andoh_h.pdf
参考
産婦人科
- 1. 学際領域の診療 Interdisciplinary Practice 肺血栓塞栓症・深部静脈血栓症 - 日産婦誌
- http://www.jsog.or.jp/PDF/56/5610-382.pdf
- 2. E.婦人科疾患の診断・治療・管理 10.10)深部静脈血栓症・肺塞栓症 - 日産婦誌61巻11号
- http://www.jsog.or.jp/PDF/61/6111-591.pdf
[★]
- 英
- antithrombin III deficiency
- 関
- アンチトロンビンIII欠乏症
[★]
- 英
- antithrombin III deficiency
- 関
- アンチトロンビンIII欠乏
[★]
アンチトロンビンIII欠損症候群
[★]
- 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
- 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの
- 関
- absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve
[★]
[★]
[★]
[★]
アンチトロンビンIII