先天性無トランスフェリン血症
WordNet
- present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
PrepTutorEJDIC
- (病気・身体的欠陥など)生まれつきの,先天的な
UpToDate Contents
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English Journal
- Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
- Beaumont-Epinette MP1, Delobel JB2, Ropert M3, Deugnier Y4, Loréal O5, Jouanolle AM1, Brissot P6, Bardou-Jacquet E6.
- Blood cells, molecules & diseases.Blood Cells Mol Dis.2015 Feb;54(2):151-4. doi: 10.1016/j.bcmd.2014.11.020. Epub 2014 Nov 26.
- As our understanding of iron metabolism improves through the more accurate description of iron metabolism actors, new causes of iron overload are identified. We, here, report 16 cases of hereditary hypotransferrinemia related to 4 previously undescribed TF (transferrin) mutations (p.Val221Gly, p.Arg
- PMID 25486930
- Hepatocyte divalent metal-ion transporter-1 is dispensable for hepatic iron accumulation and non-transferrin-bound iron uptake in mice.
- Wang CY1, Knutson MD.
- Hepatology (Baltimore, Md.).Hepatology.2013 Aug;58(2):788-98. doi: 10.1002/hep.26401. Epub 2013 Jul 1.
- Divalent metal-ion transporter-1 (DMT1) is required for iron uptake by the intestine and developing erythroid cells. DMT1 is also present in the liver, where it has been implicated in the uptake of transferrin-bound iron (TBI) and non-transferrin-bound iron (NTBI), which appears in the plasma during
- PMID 23508576
- Known and potential roles of transferrin in iron biology.
- Bartnikas TB1.
- Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine.Biometals.2012 Aug;25(4):677-86. doi: 10.1007/s10534-012-9520-3.
- Transferrin is an abundant serum metal-binding protein best known for its role in iron delivery. The human disease congenital atransferrinemia and animal models of this disease highlight the essential role of transferrin in erythropoiesis and iron metabolism. Patients and mice deficient in transferr
- PMID 22294463
Japanese Journal
- 今月の症例 先天性無トランスフェリン血症に伴うヘモクロマトーシスの1例
- 先天性無トランスフェリン血症の治療 主にアポトランスフェリンの効果:—主にアポトランスフェリンの効果—
- A Case of Atransferrinemia and 35 Cases of Hypotransferrinemia as Detected by Radioassay of Total Iron-binding Capacity of the Serum
Related Links
- 1. Am J Clin Pathol. 1991 Aug;96(2):215-8. Congenital atransferrinemia. A case report and review of the literature. Hamill RL(1), Woods JC, Cook BA. Author information: (1)Department of Pathology, Tripler ...
- Summary Disease definition Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth ...
★リンクテーブル★
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- 英
- congenital atransferrinemia
- 同
- 先天性トランスフェリン欠乏症
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- 関
- congenital、congenitally
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