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血色素沉着症与丙酮酸激酶缺乏症。一例报告及文献综述。

Hemochromatosis and pyruvate kinase deficiency. Report of a case and review of the literature.

作者信息

De Braekeleer M, St-Pierre C, Vigneault A, Simard H, de Medicis E

机构信息

Department of Human Sciences, Université du Quebec, Chicoutimi, Canada.

出版信息

Ann Hematol. 1991 May;62(5):188-9. doi: 10.1007/BF01703147.

DOI:10.1007/BF01703147
PMID:2049467
Abstract

Hemochromatosis has been reported in several patients with chronic hemolytic anemia due to pyruvate kinase deficiency. We describe here a further patient with such an association and review the literature on the subject. We hypothesize that iron overload may occur in patients with pyruvate kinase deficiency who are also carriers of the hereditary hemochromatosis gene.

摘要

已有报道称,数名丙酮酸激酶缺乏所致慢性溶血性贫血患者患有血色素沉着症。我们在此描述另一例有此关联的患者,并对该主题的文献进行综述。我们推测,同时也是遗传性血色素沉着症基因携带者的丙酮酸激酶缺乏患者可能会出现铁过载。

相似文献

1
Hemochromatosis and pyruvate kinase deficiency. Report of a case and review of the literature.血色素沉着症与丙酮酸激酶缺乏症。一例报告及文献综述。
Ann Hematol. 1991 May;62(5):188-9. doi: 10.1007/BF01703147.
2
An autopsy case of pyruvate kinase deficiency anemia associated with severe hemochromatosis.一例与严重血色素沉着症相关的丙酮酸激酶缺乏性贫血尸检病例。
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A rare combination of two inherited disorders in one patient: pyruvate kinase deficiency and hemochromatosis.一名患者同时患有两种罕见的遗传性疾病:丙酮酸激酶缺乏症和血色素沉着症。
Ann Hematol. 2009 Aug;88(8):815-6. doi: 10.1007/s00277-008-0681-7. Epub 2009 Jan 10.
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Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and secondary hemochromatosis in dogs.导致犬溶血性贫血、骨质硬化和继发性血色素沉着症的红细胞丙酮酸激酶突变。
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[Hemochromatosis and puryvate kinase deficiency (author's transl)].血色素沉着症与丙酮酸激酶缺乏症(作者译)
Ann Med Interne (Paris). 1979 Dec;130(12):679-83.
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Iron overload in congenital erythrocyte pyruvate kinase deficiency.
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Erythropoietin in the treatment of iron overload in a patient with hemolytic anemia and pyruvate kinase deficiency.促红细胞生成素治疗溶血性贫血合并丙酮酸激酶缺乏症患者的铁过载
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Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion.与先天性丙酮酸激酶缺乏症和高剂量摄入维生素C相关的铁过载。
Aust N Z J Med. 1984 Oct;14(5):667-9. doi: 10.1111/j.1445-5994.1984.tb05022.x.
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[Current status of the study of pyruvate kinase deficiency].[丙酮酸激酶缺乏症的研究现状]
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本文引用的文献

1
Iron overload in congenital erythrocyte pyruvate kinase deficiency.
Med J Aust. 1980 May 31;1(11):531-2. doi: 10.5694/j.1326-5377.1980.tb135097.x.
2
Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients.遗传性红细胞丙酮酸激酶(PK)缺乏症与慢性溶血性贫血:对6名西班牙新患者的临床、遗传及分子研究
Hum Genet. 1980;53(3):401-8. doi: 10.1007/BF00287063.
3
Coincidental nontransfusional iron overload and thalassemia minor: association with HLA-linked hemochromatosis.巧合的非输血性铁过载与轻型地中海贫血:与HLA连锁血色素沉着症的关联
Blood. 1981 Oct;58(4):844-8.
4
Serum ferritin in patients with hereditary spherocytosis.
Br J Haematol. 1981 Sep;49(1):117-22. doi: 10.1111/j.1365-2141.1981.tb07204.x.
5
Iron overload in hereditary spherocytosis: association with HLA-linked hemochromatosis.遗传性球形红细胞增多症中的铁过载:与HLA连锁血色素沉着症的关联。
Am J Hematol. 1982 Sep;13(2):101-9. doi: 10.1002/ajh.2830130202.
6
Iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion.与先天性丙酮酸激酶缺乏症和高剂量摄入维生素C相关的铁过载。
Aust N Z J Med. 1984 Oct;14(5):667-9. doi: 10.1111/j.1445-5994.1984.tb05022.x.
7
Hereditary spherocytosis with secondary haemochromatosis.遗传性球形红细胞增多症伴继发性血色素沉着症
Lancet. 1968 Aug 31;2(7566):481-5. doi: 10.1016/s0140-6736(68)90648-x.
8
A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association.一项针对609个标记血色素沉着症基因的HLA单倍型的研究:(1)该基因在HLA - A位点附近的定位以及定义杂合子群体所需的特征,(2)关于血色素沉着症与HLA关联潜在原因的假说。
Am J Hum Genet. 1987 Aug;41(2):89-105.
9
[Iron overload in congenital hemolytic anemia caused by pyruvate kinase deficiency. A major late complication].[丙酮酸激酶缺乏所致先天性溶血性贫血中的铁过载。一种主要的晚期并发症]
Presse Med. 1990 Jun 9;19(23):1087-90.
10
[Hemochromatosis and puryvate kinase deficiency (author's transl)].血色素沉着症与丙酮酸激酶缺乏症(作者译)
Ann Med Interne (Paris). 1979 Dec;130(12):679-83.