プロテインS欠乏症、プロテインS欠乏
WordNet
- any of a large group of nitrogenous organic compounds that are essential constituents of living cells; consist of polymers of amino acids; essential in the diet of animals for growth and for repair of tissues; can be obtained from meat and eggs and milk and legumes; "a diet high in protein"
- the 19th letter of the Roman alphabet (同)s
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
- 蛋白(たんばく)質
- sulfurの化学記号 / {略}South[ern]
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/12 07:19:57」(JST)
[Wiki en表示]
Protein S deficiency |
Classification and external resources |
ICD-10 |
D68.5 |
ICD-9-CM |
289.81 |
OMIM |
176880 |
DiseasesDB |
10814 |
eMedicine |
med/1924 |
Patient UK |
Protein S deficiency |
MeSH |
D018455 |
Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts as a nonenzymatic cofactor to activate protein C in the proteolytic degradation of factor Va and factor VIIIa. Decreased (antigen) levels or impaired function (activity) of protein S leads to decreased degradation of factor Va and factor VIIIa and an increased propensity to venous thrombosis. Protein S circulates in human plasma in two forms: approximately 60 percent is bound to complement component C4b β-chain while the remaining 40 percent is free. Only free protein S has activated protein C cofactor activity.
Types
There are three types of hereditary protein S deficiency:
- Type I - decreased protein S activity: decreased total protein S (=both bound and free protein S) levels AND decreased free protein S levels (quantitative defect)
- Type II - decreased protein S activity: normal free protein S levels AND normal total protein S levels (qualitative defect)
- Type III - decreased protein S activity: decreased free protein S levels AND normal total protein S levels (quantitative defect)
Protein S deficiency can also be acquired due to vitamin K deficiency or treatment with warfarin, systemic sex hormone therapy and pregnancy, liver disease, and certain chronic infections (for example HIV). Vitamin K deficiency or treatment with warfarin generally also impairs the coagulation system itself (factors II, VII, IX and X), and therefore predisposes to bleeding rather than thrombosis. Protein S deficiency is the underlying cause of a small proportion of cases of disseminated intravascular coagulation (DIC), deep venous thrombosis (DVT) and pulmonary embolism (PE).
External links
- Protein S Deficiency And Thrombophilia at proteinsdeficiency.com
- Protein S Deficiency—University of Illinois
Articles
ten Kate M, Mulder R, Platteel M, Brouwer J, van der Steege G, van der Meer J (2006). "Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency". Haematologica 91 (8): 1151–2. PMID 16885060.
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
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Blood tests |
- MCV
- Normocytic
- Microcytic
- Macrocytic
- MCHC
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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
- TTP
- Upshaw Schulman syndrome
- 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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Index of cells from bone marrow
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Description |
- Immune system
- Cells
- Physiology
- coagulation
- proteins
- granule contents
- colony-stimulating
- heme and porphyrin
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Disease |
- Red blood cell
- Monocyte and granulocyte
- Neoplasms and cancer
- Histiocytosis
- Symptoms and signs
- Blood tests
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Treatment |
- Transfusion
- Drugs
- thrombosis
- bleeding
- other
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UpToDate Contents
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English Journal
- Case of proximal calciphylaxis with protein S deficiency, successfully treated with multimodality therapy.
- Kuba Y, Terao H, Takahara M, Kiryu H, Furue M.SourceDivision of Dermatology, Hamanomachi Hospital Department of Dermatology, Graduate School of Medical Sciences, Kyushu University Fukuoka Institute for Dermatopathology, Fukuoka, Japan.
- The Journal of dermatology.J Dermatol.2012 Jul;39(7):657-9. doi: 10.1111/j.1346-8138.2011.01356.x. Epub 2011 Oct 5.
- PMID 21972994
- Calciphylaxis induced by acquired protein S deficiency in a patient with multiple myeloma - effective treatment with low-molecular-weight heparin.
- Kerk N, Meyer V, Goerge T.SourceDr. med. Nina Kerk Department of Dermatology and Venereology Division of Wound Care and Phlebology University of Münster Von-Esmarch-Str. 58 D-48149 Münster, Germany E-mail: nina.kerk@ukmuenster.de.
- Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.J Dtsch Dermatol Ges.2012 Jul;10(7):518-9. doi: 10.1111/j.1610-0387.2012.07947.x. Epub 2012 May 2.
- PMID 22551348
Japanese Journal
- Global Identification of Genes Related to Nutrient Deficiency in Intervertebral Disc Cells in an Experimental Nutrient Deprivation Model
- Sudo Hideki,Yamada Katsuhisa,Iwasaki Koji,Higashi Hideaki,Ito Manabu,Minami Akio,Iwasaki Norimasa
- PLOS ONE 8(3), e58806, 2013-03-08
- … Both p27(Kip1) and p53 protein expression was upregulated in serum-starved cells. …
- NAID 120005295654
- 極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例
- 塩田 睦記,舟塚 真,小田 絵理,白戸 由理,竹下 暁子,石垣 景子,斎藤 加代子,下澤 伸行,大澤 眞木子,SHIODA Mutsuki,FUNATSUKA Makoto,ODA Eri,SHIRATO Yuri,TAKESHITA Akiko,ISHIGAKI Keiko,SAITO Kayoko,SHIMOZAWA Nobuyuki,OSAWA Makiko
- 東京女子医科大学雑誌 83(臨時増刊(大澤眞木子教授退任記念特別)), E103-E106, 2013-01-31
- NAID 120005296624
- 極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例
- 塩田 睦記,舟塚 真,小田 絵里,白戸 由理,竹下 暁子,石垣 景子,齋藤 加代子,下澤 伸行,大澤 真木子
- 東京女子医科大学雑誌 83(E1), E103-E106, 2013-01-31
- … D-bifunctional protein欠損症(以下DBP欠損症)は、ペルオキシゾーム病の1型でβ酸化系酵素単独欠損症である。 …
- NAID 110009559397
Related Links
- Information about the rare medical condition of Protein S Deficiency and Thrombophilia, anticoagulant therapy, research and online forum. ... Protein S Deficiency And Thrombophilia Protein S Deficiency (PSD) is a rare blood disorder ...
- There are three types of Hereditary Protein S Deficiency: Type I: decreased Protein S activity, low levels of free Protein S, normal levels of bound Protein S; Type IIa - decreased Protein S activity, low levels of free Protein S, low levels ...
Related Pictures
★リンクテーブル★
[★]
- 英
- protein S deficiency
- 関
- プロテインS欠乏症
[★]
- 英
- protein S deficiency
- 関
- プロテインS欠乏
[★]
- 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
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