先天性無巨核球性血小板減少症
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- a blood disease characterized by an abnormally small number of platelets in the blood (同)thrombopenia
PrepTutorEJDIC
- clear air turbulence晴天乱流
- (病気・身体的欠陥など)生まれつきの,先天的な
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/11/07 20:18:54」(JST)
[Wiki en表示]
| Congenital amegakaryocytic thrombocytopenia |
| Classification and external resources |
| ICD-9-CM |
287.33, 287.5 |
| OMIM |
604498 |
|
[edit on Wikidata]
|
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder.[1][2][3]
Contents
- 1 Presentation
- 2 Cause
- 3 Treatment
- 4 See also
- 5 References
- 6 External links
Presentation
The primary manifestations are thrombocytopenia and megakaryocytopenia, or low numbers of platelets and megakaryocytes. There is an absence of megakaryocytes in the bone marrow with no associated physical abnormalities.[4]
Cause
The cause for this disorder appears to be a mutation in the gene for the TPO receptor, c-mpl, despite high levels of serum TPO.[5][6] In addition, there may be abnormalities with the central nervous system including the cerebrum and cerebellum which could cause symptoms.[5]
Treatment
The primary treatment for CAMT is bone marrow transplantation.[7]
Bone Marrow/Stem Cell Transplant is the only thing that ultimately cures this genetic disease. Frequent platelet transfusions are required to ensure that platelet levels do not fall to dangerous levels, although this is not always the case. It is known for patients to continue to create very small numbers of platelets over time.
See also
- Thrombopoietin
- Myeloproliferative leukemia virus oncogene
References
- ^ Ballmaier M, Germeshausen M, Schulze H, et al. (January 2001). "c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia". Blood. 97 (1): 139–46. doi:10.1182/blood.V97.1.139. PMID 11133753.
- ^ Germeshausen M, Ballmaier M, Welte K (March 2006). "MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease". Hum. Mutat. 27 (3): 296. doi:10.1002/humu.9415. PMID 16470591.
- ^ Rose MJ, Nicol KK, Skeens MA, Gross TG, Kerlin BA (June 2008). "Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics". Pediatr Blood Cancer. 50 (6): 1263–5. doi:10.1002/pbc.21453. PMID 18240171.
- ^ Freedman MH, Estrov Z (1990). "Congenital amegakaryocytic thrombocytopenia: an intrinsic hematopoietic stem cell defect". Am. J. Pediatr. Hematol. Oncol. 12 (2): 225–230. doi:10.1097/00043426-199022000-00020. PMID 2378417.
- ^ a b Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T (1999). "Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia". Proc. Natl. Acad. Sci. 96 (6): 3133–6. doi:10.1073/pnas.96.6.3132. PMC 15907. PMID 10077649.
- ^ Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K (2001). "C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia". Blood. 97 (1): 139–46. doi:10.1182/blood.V97.1.139. PMID 11133753.
- ^ King S, Germeshausen M, Strauss G, Welte K, Ballmaier M (December 2005). "Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients". Br. J. Haematol. 131 (5): 636–44. doi:10.1111/j.1365-2141.2005.05819.x. PMID 16351641.
External links
- Amegakaryocytic Thrombocytopenia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
- CAMT Specific Infant Bone Marrow Transplant Journal - One of the few non Medical Research related sources on the web with some information on CAMT. There appears to be no generic resource for CAMT patients on the web, and this is potentially due to the rariety of the disease
- https://www.facebook.com/topic.php?uid=38970584460&topic=6387#/group.php?gid=38970584460 This is the closest thing to a 'support group' for this condition.
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Cell surface receptor deficiencies
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|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
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| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
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| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
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Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
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| GC |
- GUCY2D (Leber's congenital amaurosis 1)
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| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
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| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
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| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
|
UpToDate Contents
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English Journal
- Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
- Ballmaier M, Germeshausen M.SourceDepartment of Pediatric Hematology and Oncology/Molecular Hematopoiesis, Hannover Medical School, Hannover, Germany. Ballmaier.Matthias@mh-hannover.de
- Seminars in thrombosis and hemostasis.Semin Thromb Hemost.2011 Sep;37(6):673-81. Epub 2011 Nov 18.
- Congenital amegakaryocytic thrombocytopenia (CAMT, MIM #604498) is a rare inherited bone marrow failure syndrome presenting as isolated hypomegakaryocytic thrombocytopenia at birth without other characteristic physical anomalies. Most of the patients develop a severe aplastic anemia and trilineage c
- PMID 22102270
- Congenital amegakaryocytic thrombocytopenia.
- Geddis AE.SourcePediatric Hematology-Oncology, University of California San Diego, Rady Children's Hospital San Diego, San Diego, California 92123, USA. ageddis@ucsd.edu
- Pediatric blood & cancer.Pediatr Blood Cancer.2011 Aug;57(2):199-203. doi: 10.1002/pbc.22927. Epub 2011 Feb 18.
- Congenital amegakaryocytic thrombocytopenia (CAMT) is clinically characterized by thrombocytopenia presenting at birth in a child without congenital or skeletal malformations, reduced or absent bone marrow megakaryocytes, and eventual progression to bone marrow failure. Molecular studies in most cas
- PMID 21337678
Japanese Journal
- トロンボポイエチン受容体(c-MPL)遺伝子異常による先天性無巨核球性血小板減少症(CAMT) : その発見から遺伝子治療への展開に向けて
- 井原 健二
- 日本産婦人科・新生児血液学会誌 = The Japanese journal of obstetrical, gynecological & neonatal hematology 18(2), 165-172, 2009-03-01
- NAID 10026710083
Related Links
- Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 ...
- Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al ...
★リンクテーブル★
[★]
[★]
- 英
- congenital amegakaryocytic thrombocytopenia, CAT, CAMT
- 関
- 血小板減少症
参考
- 1. AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL - OMIM
- Gene map locus 1p34
- http://omim.org/entry/604498
- http://en.wikipedia.org/wiki/Congenital_amegakaryocytic_thrombocytopenia
[★]
先天性無巨核球性血小板減少症、congenital amegakaryocytic thrombocytopenia
[★]
- 関
- congenital、congenitally
[★]
[★]
無巨核球性血小板減少症