アンチトロンビン欠乏症
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
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/01/21 10:44:03」(JST)
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This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (June 2008) |
| 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 (Swaroop syndrome) 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 renal 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.
Heparin resistance[edit]
Patients with AT3 deficiency need higher doses of heparin. AT3 is known to slowly break up fibrin and factor X. When heparin binds to AT3, AT3 will break up fibrin and factor X faster. 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. [4]
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.
ThrombateThrombate.com==See also==
References[edit]
- ^ 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.
- ^ Basic and Clinical Pharmacolgy, Lange, 12th ed
External links[edit]
- Information on antithrombin from UIUC
- Non-profit advocacy group for patients and families with antithrombin deficiency
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Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
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Red
blood cells |
| ↑ |
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| ↓ |
| Anemia |
| Nutritional |
- Micro-: Iron deficiency anemia
- Macro-: Megaloblastic anemia
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|
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
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| Acquired |
- Drug-induced autoimmune
- Drug-induced nonautoimmune
- Hemolytic disease of the newborn
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|
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
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|
|
|
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
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|
|
| ↓ |
Hypo-
coagulability |
| Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- Heparin-induced thrombocytopenia
- May-Hegglin anomaly
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|
| Platelet function |
- adhesion
- aggregation
- Glanzmann's thrombasthenia
- platelet storage pool deficiency
- Hermansky–Pudlak syndrome
- Gray platelet syndrome
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|
| Clotting factor |
- Hemophilia
- von Willebrand disease
- Hypoprothrombinemia/II
- XIII
- Dysfibrinogenemia
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cell/phys (coag, heme, immu, gran), csfs
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rbmg/mogr/tumr/hist, sysi/epon, btst
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drug (B1/2/3+5+6), btst, trns
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|
|
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Disorders of globin and globulin proteins
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|
| Globin |
- Hemoglobinopathy: Thalassemia
- Sickle-cell disease/trait
- HPFH
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| Globulin |
|
|
| Serpin |
- Serpinopathy: Alpha 1-antitrypsin deficiency
- Antithrombin III deficiency
- Hereditary angioedema
- FENIB
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- See also
- globular proteins
- globins
- antibodies
- serpins
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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UpToDate Contents
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English Journal
- Iron deficiency anemia as a risk factor for cerebrovascular events in early childhood: a case-control study.
- Azab SF1, Abdelsalam SM, Saleh SH, Elbehedy RM, Lotfy SM, Esh AM, Srea MA, Aziz KA.Author information 1Department of Pediatrics, Faculty of Medicine, Zagazig University, 18 Omar Bin Elkhattab St, Al Qawmia, Zagazig City, Sharkia Governorate, Egypt, seham_azab@yahoo.com.AbstractIn recent years, iron-deficiency anemia (IDA) has been suggested to have an association with childhood-onset ischemic stroke in otherwise healthy children, but few cases have proven it thus far. In this study, we aimed to investigate whether iron-deficiency anemia is a risk factor for cerebrovascular events and childhood-onset ischemic stroke in previously healthy children. This was a case-control study that included 21 stroke cases with patients who had previously been generally healthy, and matched with age and gender of 100 healthy control subjects. Patients were included if a diagnosis of definite stroke had been made and other known etiologies of childhood onset stroke were excluded. For all subjects, iron parameters including serum iron, ferritin, transferrin, total iron binding capacity, and transferrin saturation were assessed. We screened all case patients for prothrombotic factors including level of hemoglobin S, protein C, protein S, antithrombin III, lupus anticoagulant, factor V Leiden, and prothrombin gene mutation (G20210A). Brain magnetic resonance images (MRI), magnetic resonance angiography (MRA), and magnetic resonance venography (MRV) were performed to all case patients. All case patients have normal results regarding functional, immunological, and molecular assay for prothrombotic factors screening. Our results showed that IDA was disclosed in 57.1 % of stroke cases with no identified cause, as compared to 26 % of controls. Our study suggest that previously healthy children who developed stroke are 3.8 times more likely to have IDA than healthy children, who do not develop stroke (OR, 3.8; 95 % CI:1.3-11.2 P = 0.005). In addition, there was significant interaction between IDA and thrombocytosis among studied cases (OR, 10.5; 95 % CI, 1.0-152 P = 0.02). There were nonsignificant differences between stroke patients with IDA and those with normal iron parameters regarding stroke subtype (P > 0.05). Public health messages on the importance of early detection of iron-deficiency anemia in young children, especially in our developing countries so that it can be treated before a life-threatening complication like stroke develops.
- Annals of hematology.Ann Hematol.2014 Apr;93(4):571-6. doi: 10.1007/s00277-013-1922-y. Epub 2013 Oct 19.
- In recent years, iron-deficiency anemia (IDA) has been suggested to have an association with childhood-onset ischemic stroke in otherwise healthy children, but few cases have proven it thus far. In this study, we aimed to investigate whether iron-deficiency anemia is a risk factor for cerebrovascula
- PMID 24141332
- Clinical features and underlying causes of cerebral venous thrombosis in Japanese patients.
- Shindo A1, Wada H, Ishikawa H, Ito A, Asahi M, Ii Y, Ikejiri M, Tomimoto H.Author information 1Department of Neurology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie, 514-8507, Japan, a-shindo@clin.medic.mie-u.ac.jp.AbstractThe clinical symptoms, causative factors, and prognosis in Japanese patients with cerebral venous thrombosis have not been adequately characterized. The present study describes these features in patients in Japan. Twenty-two patients with cerebral venous thrombosis were retrospectively identified. Diagnosis was confirmed by either digital subtraction angiography, magnetic resonance venography, or contrast-enhanced computed tomography. Demographic data and clinical and radiological features were recorded and analyzed for each patient. Prognosis was evaluated by the modified Rankin scale (mRS) at the time of hospital discharge. The most frequent symptom of cerebral venous thrombosis was headache (59.1 %). Causative factors included congenital thrombophilia (31.8 %), acquired thrombophilia (27.3 %), and iron-deficiency anemia (13.6 %). Of seven patients with congenital thrombophilia, four had mutations in the protein S gene, two had mutations in the protein C gene, and one had mutations in the antithrombin gene. All patients were alive at discharge from hospital. Nineteen of the 22 patients (86.4 %) recovered completely or exhibited only mild residual symptoms (mRS 0-2). However, three patients (13.6 %) had a poor prognosis (mRS 3-5). Cerebral venous thrombosis in Japanese patients is frequently associated with congenital thrombophilia and protein S gene mutation.
- International journal of hematology.Int J Hematol.2014 Mar 6. [Epub ahead of print]
- The clinical symptoms, causative factors, and prognosis in Japanese patients with cerebral venous thrombosis have not been adequately characterized. The present study describes these features in patients in Japan. Twenty-two patients with cerebral venous thrombosis were retrospectively identified. D
- PMID 24599415
- Pharmacokinetics of Recombinant Human Antithrombin in Delivery and Surgery Patients With Hereditary Antithrombin Deficiency.
- Dejongh J, Frieling J, Lowry S, Drenth HJ.AbstractPopulation pharmacokinetic (PK) analyses were conducted to refine dosing recommendations for recombinant human anti-thrombin therapy in surgery and delivery patients with hereditary antithrombin deficiency (HD). Single-dose PK data from patients with HD and nonlinear mixed-effects modeling were used to devise a dosing regimen to target antithrombin (AT) activity levels between 80% and 120% of normal. External validation with data from a phase 3 trial confirmed the correctness of a covariate-free model for surgery patients, but dosing adjustment was necessary for delivery patients. After different covariates were tested, the model was updated to incorporate the influential covariate, delivery. Simulations were used to develop a therapeutic drug-monitoring scenario that results in steady state AT activity levels within the target range as quickly as practically feasible. Data from a second clinical trial provided additional external validation and confirmed the accuracy of the dosing model for both groups of patients.
- Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis.Clin Appl Thromb Hemost.2014 Mar 4. [Epub ahead of print]
- Population pharmacokinetic (PK) analyses were conducted to refine dosing recommendations for recombinant human anti-thrombin therapy in surgery and delivery patients with hereditary antithrombin deficiency (HD). Single-dose PK data from patients with HD and nonlinear mixed-effects modeling were used
- PMID 24335249
Japanese Journal
- 加藤 衣央,小嶋 哲人
- 日本血栓止血学会誌 25(1), 33-39, 2014
- 要約：アンチトロンビン（AT）は，血液凝固における重要な生理的制御因子である．血栓性素因となる先天性AT 欠損症は種々の遺伝子変異により生ずることが判明しており，それらの発症分子病態を解明・理解することは患者の血栓症発症リスク管理に役立てることができる．また，近年，血栓症の新規概念としてアンチトロンビン抵抗性が提唱され，注目を集めている．一方，重症敗血症におけるAT 製剤およびヘパリンの併用につい …
- NAID 130003393336
- Antithrombin-p.Ala416Pro: The Second Reported Case in Japan
- Shigekiyo Toshio,Sekimoto Etsuko,Shibata Hironobu,Ozaki Shuji,Kurushima Atsushi,Aihara Ken-ichi
- Internal Medicine 53(5), 477-481, 2014
- … He, his father and his aunt had low antithrombin (AT) heparin cofactor activity and progressive AT activity levels with normal AT antigen levels. … These results show that the AT-p.Ala416Pro mutation was responsible for type IIa AT deficiency in this family. …
- NAID 130003392676
- 5) 妊娠高血圧症候群ならびに関連疾患の発症予知 : リスク因子の解明をめざして(シンポジウム2:周産期「妊娠高血圧症候群の基礎と臨床-予防・治療の新戦略に向けて」,第65回日本産科婦人科学会・学術講演会)
- 森川 守
- 日本産科婦人科學會雜誌 65(11), 2616-2624, 2013-11-01
- … Some women exhibit a gradual decline in antithrombin (AT) activity in pregnancy and to less than 65% peripartum (Pregnancy-induced AT deficiency, PIATD). … Relationship among eclampsia, pregnancy-induced hypertension (PIH) and pregnancyinduced antithrombin deficiency (PIATD). … Antithrombin can escape from the blood into the interstitial space. …
- NAID 110009674985
Related Links
- Antithrombin Deficiency An In-Depth Guide for Patients and healthcare Providers By: Stephan Moll, MD What is Antithrombin? Antithrombin is a protein in our ... NBCA provides the information and materials on this site for general ...
- Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the ...
★リンクテーブル★
[★]
- 英
- antithrombin deficiency
- 関
- アンチトロンビンIII
[★]
- 英
- antithrombin deficiency
[★]
先天性アンチトロンビン欠損症
[★]
- 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