先天性再生不良性貧血
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
- a deficiency of red blood cells (同)anaemia
- a lack of vitality (同)anaemia
- genus of terrestrial or lithophytic ferns having pinnatifid fronds; chiefly of tropical America (同)genus Anemia
PrepTutorEJDIC
- (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）』「2015/01/15 14:58:41」(JST)
[Wiki en表示]
| Congenital hypoplastic anemia |
| Classification and external resources |
| ICD-10 |
D61.0 |
| ICD-9 |
284.0 |
| OMIM |
609135 |
| MeSH |
D029502 |
Congenital hypoplastic anemia (or constitutional aplastic anemia) refers to a type of aplastic anemia which is primarily due to a congenital disorder.
Associated genes include TERC, TERT, IFNG, NBS1, PRF1, and SBDS.[1]
Examples include:
- Fanconi anemia
- Diamond-Blackfan anemia
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 609135
|
Pathology: hematology, hematologic 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
|
|
|
|
|
Index of cells from bone marrow
|
|
| Description |
- Immune system
- Cells
- Physiology
- coagulation
- proteins
- granule contents
- colony-stimulating
|
|
| Disease |
- Red blood cell
- Monocyte and granulocyte
- Neoplasms and cancer
- Histiocytosis
- Symptoms and signs
- Blood tests
|
|
| Treatment |
- Transfusion
- Drugs
- antithrombotics
- antihemorrhagics
- other
|
|
|
UpToDate Contents
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English Journal
- Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.
- Papneja K1, Bhatt MD1, Kirby-Allen M2, Arora S3, Wiernikowski JT1, Athale UH1.
- Pediatric blood & cancer.Pediatr Blood Cancer.2016 Aug;63(8):1480-3. doi: 10.1002/pbc.25995. Epub 2016 Apr 15.
- Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current r
- PMID 27082377
- Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.
- Kalejaiye A1, Giri N2, Brewer CC3, Zalewski CK3, King KA3, Adams CD4, Rosenberg PS2, Kim HJ3,5, Alter BP2.
- Pediatric blood & cancer.Pediatr Blood Cancer.2016 Jul 18. doi: 10.1002/pbc.26155. [Epub ahead of print]
- BACKGROUND: The inherited bone marrow failure syndromes (IBMFSs) are diverse disorders with syndrome-specific features; their otologic and audiologic manifestations have not been well described. Our objective was to characterize these in patients with Fanconi anemia (FA), dyskeratosis congenita (DC)
- PMID 27428025
- Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.
- Utsugisawa T1, Uchiyama T2, Toki T3, Ogura H1, Aoki T1, Hamaguchi I4, Ishiguro A5, Ohara A6, Kojima S7, Ohga S8, Ito E3, Kanno H9.
- Blood cells, molecules & diseases.Blood Cells Mol Dis.2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. Epub 2016 Apr 11.
- Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia with mutations in ribosomal protein (RP) genes. Elevated activity of erythrocyte adenosine deaminase (eADA) has been utilized as a biomarker of DBA. We examined erythrocyte reduced glutathione (GSH) as well as eADA in 22 patients in 18 D
- PMID 27282564
Japanese Journal
- Ocular Hypertelorism and Exotropia as Presenting Signs in Diamond-Blackfan Anemia
- 小児難治性貧血における赤血球膜異常 赤血球膜糖鎖異常を伴う小児低形成性貧血の一疾患群:赤血球膜糖鎖異常を伴う小児低形成性貧血の一疾患群
- Fanconi 貧血と思われる再生不良性貧血に続発した急性骨髄性白血病に親子間同種骨髄移植を施行した1症例
Related Links
- Congenital hypoplastic anemia (Diamond-Blackfan anemia, DBA) is a rare condition that usually becomes symptomatic in early infancy, often presenting with pallor in the neonatal period. More than 90% of cases are recognized in the ...
- Some types of anemia are named for the factors causing them: poor diet (nutritional anemia), excessive blood loss (hemorrhagic anemia), congenital defects of hemoglobin (hypochromic anemia), exposure to industrial poisons ...
- Patients with congenital hypoplastic anemia may have a mutation (change) in one of the genes that make proteins found in the cell’s ribosomes. Also called Blackfan–Diamond anemia, congenital pure red cell aplasia, DBA
★リンクテーブル★
[★]
- 英
- Diamond-Blackfan anemia
- 同
- Diamond-Blackfan貧血、先天性赤芽球癆 congenital hypoplastic anemia congenital pure red cellaplasia
- ダイアモンド-ブラックファン貧血 Diamond-Blackfananemia、ブラックファン-ダイアモンド貧血 Blackfan-Diamondanemia
- 関
- 先天性形成不良性貧血、先天性低形成性貧血。赤芽球癆
[show details]
[★]
- 英
- Blackfan-Diamond anemia
- 同
- 先天性形成不良性貧血 congenital hypoplastic anemia, pure red cell anemia
- 関
- 先天性再生不良性貧血、先天性赤芽球癆
[★]
[★]
- 英
- congenital hypoplastic anemia
- 関
- 先天性赤芽球癆、先天性形成不良性貧血
[★]
- 英
- congenital hypoplastic anemia
- 関
- 先天性赤芽球癆、先天性低形成性貧血
[★]
- 関
- congenital、congenitally
[★]
[★]
- 関
- aplastic