プロテインC欠乏症
WordNet
- the 3rd letter of the Roman alphabet (同)c
- (music) the keynote of the scale of C major
- a general-purpose programing language closely associated with the UNIX operating system
- 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"
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
- carbonの化学記号
- 蛋白(たんばく)質
- cesiumの化学記号
- cadmium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)』「2014/03/13 23:29:51」(JST)
[Wiki en表示]
Protein C deficiency |
Classification and external resources |
ICD-10 |
D68.5 |
ICD-9 |
289.81 |
OMIM |
176860 |
DiseasesDB |
10807 |
eMedicine |
med/1923 |
MeSH |
D020151 |
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981.[1] The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been estimated to about 0.2% to 0.5% of the general population. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8-10), whereas no association with arterial thrombotic disease has been found.[2]
Contents
- 1 Pathophysiology
- 2 Complications
- 3 Treatment
- 4 References
Pathophysiology[edit]
The main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII. A deficiency results in a loss of the normal cleaving of Factors Va and VIIIa. There are two main types of protein C mutations that lead to protein C deficiency:[2]
- Type I: Quantitative defects of protein C (low production or short protein half life)
- Type II: Qualitative defects, in which interaction with other molecules is abnormal. Defects in interaction with thrombomodulin, phospholipids, factors V/VIII and others have been described.
The majority of people with protein C deficiency lack only one of the functioning genes, and are therefore heterozygous. Before 1999, only sixteen cases of homozygous protein C deficiency had been described (two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream). This may manifest itself as purpura fulminans in the newborn.[2]
Complications[edit]
Protein C is vitamin K-dependent. Patients with Protein C deficiency are at an increased risk of developing skin necrosis while on warfarin. Protein C has a short half life (6hrs) compared with other vitamin K-dependent factors and therefore is rapidly depleted with warfarin initiation, resulting in a transient hypercoagulable state.
Treatment[edit]
Primary prophylaxis with low-molecular weight heparin, heparin, or warfarin is often considered in known familial cases. Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause.[3]
Studies have demonstrated an increased risk of recurrent venous thromboembolic events in patients with protein C deficiency. Therefore, long-term anticoagulation therapy with warfarin may be considered in these patients.[3]
Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.[citation needed]
Liver transplant may be considered curative for homozygous protein C deficiency.[4][non-primary source needed][original research?]
References[edit]
- ^ Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C (1981). "Deficiency of protein C in congenital thrombotic disease". J. Clin. Invest. 68 (5): 1370–3. doi:10.1172/JCI110385. PMC 370934. PMID 6895379.
- ^ a b c Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J 4 (1): 15. doi:10.1186/1477-9560-4-15. PMC 1592479. PMID 16968541.
- ^ a b Goldenberg NA, Manco-Johnson MJ. Protein C deficiency. Haemophilia. 2008 Nov;14(6):1214-21
- ^ Pediatr Transplant. 2009 Mar;13(2):251-4. Epub 2008 May 11. Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation.
Pathology: hematology, hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)
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Red
blood cells |
↑ |
|
|
↓ |
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
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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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|
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↓ |
Hypo-
coagulability |
Thrombocytopenia |
- Thrombocytopenic purpura: ITP
- TM
- Heparin-induced thrombocytopenia
- May-Hegglin anomaly
|
|
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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UpToDate Contents
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English Journal
- Homozygous protein C deficiency with late onset venous thrombosis: identification and in vitro expression study of a novel Pro275Ser mutation.
- Yu T, Dai J, Liu H, Wang J, Ding Q, Wang H, Wang X, Fu Q.Source*Department of Laboratory Medicine, Shanghai Children's Medical Center †Department of Clinical Transfusion, Ruijin Hospital ‡Department of Laboratory Medicine, Xinhua Hospital §Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P. R. China ||these authors contributed equally to this work and should be considered as co-first authors.
- Pathology.Pathology.2012 Jun;44(4):348-53.
- AIMS: : To identify the mutation and study the molecular mechanism of inherited protein C (PC) deficiency in a Chinese pedigree.METHODS: : The plasma levels of PC activity (PC:A) and antigen (PC:Ag) were measured by chromogenic assay and ELISA, respectively. The PROC gene was amplified and sequenced
- PMID 22531345
- Drotrecogin alfa (activated) in adults with septic shock.
- Ranieri VM, Thompson BT, Barie PS, Dhainaut JF, Douglas IS, Finfer S, Gårdlund B, Marshall JC, Rhodes A, Artigas A, Payen D, Tenhunen J, Al-Khalidi HR, Thompson V, Janes J, Macias WL, Vangerow B, Williams MD; PROWESS-SHOCK Study Group.Collaborators (244)Ranieri V, Thompson B, Barie PS, Dhainaut JF, Douglas IS, Finfer S, Gårdlund B, Marshall JC, Rhodes A, Janes J, Macias WL, Vangerow B, Williams MD, Slutsky AS, Guyatt G, Angus D, Evans T, Carroll R, Weijer C, Boots R, Ernest D, Harrigan P, Chapman M, Bellomo R, Finfer S, Wright C, Crozier T, Davies A, French C, Orford N, Leditschke A, Reade M, MacIsaac C, Dugernier T, Jorens P, Vander Laenen M, Malbrain M, Meersseman W, Stockman W, Damas F, Raemaekers J, Dive AM, Damas P, Rogiers P, Laterre PF, Lobo SM, Auler JO Jr, Carvalho CM, Caldeira M, Dias FS, de Carvalho FB, Machado F, Aslanian P, Guimond JG, Ferguson N, Zuege D, Zuege D, Chittock D, Dhingra V, Chittock D, Rico P, Kumar A, Paunovic B, Fowler R, Lesur O, Anderson W, Sne N, Light R, Sramek V, Neiser J, Pachl J, Sevcik P, Burget I, Cerny V, Parizkova R, Kasal E, Balik M, Dlouhy P, Tenhunen J, Kurola J, Parviainen I, Laru-Sompa R, Loisa P, Kuitunen A, Pettila V, Kaukonen M, Saarinen K, Santré C, Hilbert G, Azoulay E, Mentec H, Levy B, Villers D, Bernardin G, Payen D, Diehl JL, Montravers P, Duranteau J, Cohen Y, Malledant Y, LePape A, Zéni F, Lefrant JY, Quenot JP, Durand-Gasselin J, Guiot P, Ferrandiere M, Le Tulzo Y, Lu Q, Jaber S, Gatécel C, Asehnoune K, de Jonghe B, Ricome JL, Asfar P, Francois B, Desachy A, Mercier E, Martin-Lefèvre L, Robert R, Allaouchiche B, Gerlach H, Motsch J, Jaschinski U, Kuhlen R, Kubitza S, Kluge S, Barth J, Marx G, Hartl W, Weiler N, Jog S, Gadkari M, Gupta R, Chopra VK, Varma A, Oomman A, Reddy R, Singh O, Thacker H, Ramesh MK, Tulli G, Fumagalli R, Gagliardi G, Ranieri M, Urbino R, Minoja G, Panascia B, Castiglione G, Salaris D, Antonelli M, Della Corte F, Poblano Morales MN, Aguirre Sanchez JS, Aguilera Almazán FD, Domínguez Cherit JG, Henderson S, Ure R, Van Haren F, McArthur C, Williams T, Moreno R, Póvoa P, Paiva JA, Catorze N, Blanco J, Ruiz-Rodriguez JC, Alvarez F, Rello J, Rodriguez A, Lopez MJ, Perez C, Betbese A, Artigas A, Ibanez J, Ruiz-Santana S, Gomez JI, Rico J, Sanchez M, Esteban A, Gonzalez G, Cambronero J, Sirgo G, Claramonte R, Guzman T, Maggiorini M, Kleger GR, Malacrida R, van Leeuwen H, van Zanten A, Pickkers P, Schouten J, Mallick A, Quasim T, Zuleika M, Sarkar P, Pogson D, MacNaughton P, Rhodes A, Whitehouse T, Margarson M, Jonas M, Bewley J, Arawwawala D, McLellan S, Davidson A, Harris RS, Samuel J, Birkhahn R, Willms D, Ardolic B, Hahn B, Douglas I, Albert R, Charchaflieh J, Djurkovic S, Barney J, Striker D, Koura F, McNellis M, Chang S, Frendl G, Morrison C, Kelly M, Dishman K, Anzueto A, Hagg D, Barram M, Ettinger N, Fruci C, Bayasi G, Kumar A, Abel W, Tanios M, Wunderink R, Rains R, Young B, Bekemeyer W, Krell K, Lo T, Wright P, Wilson M, Rains R, Wright P.
- The New England journal of medicine.N Engl J Med.2012 May 31;366(22):2055-64. Epub 2012 May 22.
- BACKGROUND: There have been conflicting reports on the efficacy of recombinant human activated protein C, or drotrecogin alfa (activated) (DrotAA), for the treatment of patients with septic shock.METHODS: In this randomized, double-blind, placebo-controlled, multicenter trial, we assigned 1697 patie
- PMID 22616830
Japanese Journal
- Novel mutations of cholesteryl ester transfer protein (CETP) gene in Japanese hyperalphalipoproteinemic subjects
- Ohtani Rumiko,Inazu Akihiro,Noji Yoshihiro,Wakasugi Takanobu,Miwa Kenji,Tada Hayato,Kawashiri Masa-aki,Noguchi Tohru,Nohara Atsushi,Kobayashi Junji,Koizumi Junji,Yamagishi Masakazu,Mabuchi Hiroshi
- Clinica Chimica Acta 413(5-6), 537-543, 2012-03-22
- … Mutations which were suspected to cause a splicing defect or a protein secretion defect were investigated in COS-1 cells transfected with a CETP minigene construct or a cDNA expression vector. … Conclusions: Three novel CETP gene mutations are responsible for HALP by CETP deficiency. …
- NAID 120004026116
- A role for mDia, a Rho-regulated actin nucleator, in tangential migration of interneuron precursors.
- Shinohara Ryota,Thumkeo Dean,Kamijo Hiroshi,Kaneko Naoko,Sawamoto Kazunobu,Watanabe Keisuke,Takebayashi Hirohide,Kiyonari Hiroshi,Ishizaki Toshimasa,Furuyashiki Tomoyuki,Narumiya Shuh
- Nature neuroscience, 2012-01-15
- … mDia deficiency impaired tangential migration of cortical and olfactory inhibitory interneurons, whereas radial migration and consequent layer formation of cortical excitatory neurons were unaffected. … Blockade of Rho-associated protein kinase (ROCK), which regulates myosin II, also impaired nuclear translocation. …
- NAID 120003726113
Related Links
- Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of genetic disorders known as thrombophilias. The prevalence of protein C deficiency has been ...
- Individuals with mild protein C deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the ... Other factors can raise the risk of abnormal blood clots in people with mild protein C deficiency.
Related Pictures
![Acquired causes of thrombophilia](https://1mg.info/0/6/4/1029.jpg)
![of the protein C–protein S system](https://1mg.info/0/6/4/1030.jpg)
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![Image, 6](https://1mg.info/0/6/4/1031.jpg)
![protein c deficiency protein c is a](https://1mg.info/0/6/4/1032.jpg)
★リンクテーブル★
[★]
- 英
- protein C deficiency
- 関
- プロテインC欠乏
[★]
- 英
- protein C deficiency
- 関
- プロテインC
[★]
- 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
[★]
[★]
セシウム, caesium, cesium
[★]
カドミウム
- 関
- cadmium
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