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与异常诱导性红细胞阳离子通透性相关的先天性溶血性贫血

Congenital haemolytic anaemia associated with abnormal inducible red cell cation permeability.

作者信息

Gardiner R M, Barnes N D, Ellory J C

出版信息

Arch Dis Child. 1983 Jul;58(7):547-9. doi: 10.1136/adc.58.7.547.

DOI:10.1136/adc.58.7.547
PMID:6307190
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1628194/
Abstract

Congenital haemolytic anaemia in a 14 year old girl was caused by increased red cell membrane cation permeability. Potassium permeability was unusually sensitive to hydrostatic pressure and treatment with N-ethylmaleimide, factors which activate a specific chloride dependent potassium channel in cell membranes.

摘要

一名14岁女孩的先天性溶血性贫血是由红细胞膜阳离子通透性增加所致。钾通透性对流体静压和N-乙基马来酰亚胺治疗异常敏感，这些因素会激活细胞膜中一种特定的氯离子依赖性钾通道。

相似文献

1
Congenital haemolytic anaemia associated with abnormal inducible red cell cation permeability.与异常诱导性红细胞阳离子通透性相关的先天性溶血性贫血
Arch Dis Child. 1983 Jul;58(7):547-9. doi: 10.1136/adc.58.7.547.
2
Congenital hemolytic anemia with high sodium, low potassium red cells. I. Studies of membrane permeability.伴有高钠低钾红细胞的先天性溶血性贫血。I. 膜通透性研究。
N Engl J Med. 1968 Mar 14;278(11):573-81. doi: 10.1056/NEJM196803142781101.
3
[Na and K cation levels and exchange across the membrane of the erythrocyte. II. Results obtained in the erythrocytes of 20 patients with congenital hemolytic anemia].
Pathol Biol (Paris). 1974 Jan;22(1):51-60.
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Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss.与红细胞脱水和钾丢失增加相关的先天性溶血性贫血。
N Engl J Med. 1974 Sep 5;291(10):491-6. doi: 10.1056/NEJM197409052911003.
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Congenital stomatocytosis and chronic haemolytic anaemia.先天性口形红细胞增多症与慢性溶血性贫血。
Scand J Haematol. 1975 Dec;15(5):339-46. doi: 10.1111/j.1600-0609.1975.tb01089.x.
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Congenital ion-transport defect in red cells.红细胞先天性离子转运缺陷。
N Engl J Med. 1968 Mar 14;278(11):621. doi: 10.1056/NEJM196803142781111.
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[Congenital stomatocytosis with hemolytic anemia--with abnormal cation permeability and defective membrane proteins].[先天性口形红细胞增多症伴溶血性贫血——伴有异常阳离子通透性和膜蛋白缺陷]
Ugeskr Laeger. 1991 Mar 4;153(10):724-6.
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Role of the spleen in congenital stomatocytosis associated with high sodium-low potassium erythrocytes.脾脏在与高钠低钾红细胞相关的先天性口形红细胞增多症中的作用。
Klin Wochenschr. 1981 Feb 16;59(4):173-9. doi: 10.1007/BF01477477.
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Characterisation of Asp669Tyr Piezo1 cation channel activity in red blood cells: an unexpected phenotype.红细胞中Asp669Tyr Piezo1阳离子通道活性的表征：一种意外的表型。
Br J Haematol. 2021 Jul;194(1):e51-e55. doi: 10.1111/bjh.17467. Epub 2021 May 11.
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Editorial: Water content of erythrocytes.社论：红细胞的含水量
N Engl J Med. 1974 Sep 5;291(10):526-7. doi: 10.1056/NEJM197409052911011.

引用本文的文献

1
Effects of high hydrostatic pressure on 'passive' monovalent cation transport in human red cells.高静水压对人红细胞中“被动”单价阳离子转运的影响。
J Membr Biol. 1986;94(1):1-17. doi: 10.1007/BF01901009.

本文引用的文献

1
Alterations in metabolic energetics and cation transport during aging of red cells.红细胞衰老过程中代谢能量学和阳离子转运的变化。
J Clin Invest. 1959 Sep;38(9):1572-86. doi: 10.1172/JCI103936.
2
Stomatocytosis: a hereditary red cell anomally associated with haemolytic anaemia.口形红细胞增多症：一种与溶血性贫血相关的遗传性红细胞异常。
Br J Haematol. 1961 Jul;7:303-14. doi: 10.1111/j.1365-2141.1961.tb00341.x.
3
Stimulation of the sodium-potassium pump by trypsin in low potassium type erythrocytes of goats.胰蛋白酶对山羊低钾型红细胞钠钾泵的刺激作用。
J Physiol. 1980 Apr;301:25-37. doi: 10.1113/jphysiol.1980.sp013185.
4
Stomatocytosis.口形红细胞症
Proc R Soc Med. 1967 Jan;60(1):13-5. doi: 10.1177/003591576706000108.
5
Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant.伴有高钠低钾红细胞的先天性溶血性贫血。一个具有新变异型的家族三代人的研究。
N Engl J Med. 1969 Apr 24;280(17):909-16. doi: 10.1056/NEJM196904242801701.
6
Characteristics of the membrane defect in the hereditary stomatocytosis syndrome.遗传性口形红细胞增多症综合征中膜缺陷的特征。
Blood. 1975 Sep;46(3):337-56.