在一名腺苷脱氨酶缺乏的儿童出生时，其血浆脱氧腺苷、腺苷以及红细胞脱氧三磷酸腺苷水平升高。
Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child.
作者信息
Hirschhorn R, Roegner V, Rubinstein A, Papageorgiou P
出版信息
J Clin Invest. 1980 Mar;65(3):768-71. doi: 10.1172/JCI109725.
Abstract
We have determined concentrations of adenosine, deoxyadenosine, and deoxyATP (dATP) in cord blood from an infant prenatally diagnosed as ADA deficient. Plasma deoxyadenosine and adenosine were already elevated in cord blood (0.7 and 0.5 microM vs. normal of less than 0.07 microM). Elevation of plasma deoxyadenosine has not previously been documented in these children. Erythrocyte dATP content was also elevated at birth (215 nmol/ml packed erythrocytes vs. normal of 2.9). These elevated concentrations of adenosine, deoxyadenosine, and dATP are similar to those we observed in another older adenosine deaminase-deficient patient and may explain the impaired immune function and lymphopenia seen at birth.
摘要
我们测定了一名产前诊断为腺苷脱氨酶（ADA）缺乏的婴儿脐带血中腺苷、脱氧腺苷和脱氧三磷酸腺苷（dATP）的浓度。脐带血中血浆脱氧腺苷和腺苷已经升高（分别为0.7和0.5微摩尔，而正常水平低于0.07微摩尔）。此前在这些儿童中尚未记录到血浆脱氧腺苷升高的情况。出生时红细胞dATP含量也升高（每毫升压积红细胞中为215纳摩尔，而正常水平为2.9）。腺苷、脱氧腺苷和dATP的这些升高浓度与我们在另一名年龄较大的腺苷脱氨酶缺乏患者中观察到的情况相似，可能解释了出生时出现的免疫功能受损和淋巴细胞减少。
相似文献
1
Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child.在一名腺苷脱氨酶缺乏的儿童出生时，其血浆脱氧腺苷、腺苷以及红细胞脱氧三磷酸腺苷水平升高。
J Clin Invest. 1980 Mar;65(3):768-71. doi: 10.1172/JCI109725.
2
Formation and degradation of deoxyadenosine nucleotides in inherited adenosine deaminase deficiency.遗传性腺苷脱氨酶缺乏症中脱氧腺苷核苷酸的形成与降解
Biosci Rep. 1982 May;2(5):303-14. doi: 10.1007/BF01115116.
3
Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.腺苷脱氨酶缺乏伴重症联合免疫缺陷病中腺嘌呤脱氧核苷和脱氧核苷酸的过量产生。
J Clin Invest. 1978 Oct;62(4):884-7. doi: 10.1172/JCI109201.
4
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.脱氧三磷酸腺苷作为腺苷脱氨酶缺乏症中一种潜在的有毒代谢物。
Proc Natl Acad Sci U S A. 1978 Jan;75(1):472-6. doi: 10.1073/pnas.75.1.472.
5
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.对于腺苷脱氨酶缺乏症患者，骨髓移植只能使嘌呤代谢产物部分恢复正常。
J Clin Invest. 1981 Dec;68(6):1387-93. doi: 10.1172/jci110389.
6
Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme.无免疫缺陷的红细胞腺苷脱氨酶缺乏症。不稳定突变酶的证据。
J Clin Invest. 1979 Oct;64(4):1130-9. doi: 10.1172/JCI109552.
7
Comparison of red cell transfusion and polyethylene glycol-modified adenosine deaminase therapy in an adenosine deaminase-deficient child: measurement of erythrocyte deoxyadenosine triphosphate as a useful tool.腺苷脱氨酶缺乏患儿红细胞输血与聚乙二醇修饰腺苷脱氨酶治疗的比较：以红细胞三磷酸脱氧腺苷测定作为一种有用工具
Pediatr Res. 1990 Aug;28(2):127-30. doi: 10.1203/00006450-199008000-00010.
8
Nucleotide levels and metabolism of adenosine and deoxyadenosine in intact erythrocytes deficient in adenosine deaminase.腺苷脱氨酶缺陷的完整红细胞中核苷酸水平以及腺苷和脱氧腺苷的代谢
Adv Exp Med Biol. 1984;165 Pt A:363-6. doi: 10.1007/978-1-4684-4553-4_72.
9
Studies on the energy metabolism of opossum Didelphis virginiana erythrocytes--IV. Red cells have low adenosine deaminase activity and high levels of deoxyadenosine nucleotides.负鼠弗吉尼亚负鼠红细胞能量代谢的研究——IV. 红细胞腺苷脱氨酶活性低，脱氧腺苷核苷酸水平高。
Life Sci. 1989;44(14):963-70. doi: 10.1016/0024-3205(89)90496-7.
10
In vivo inactivation of erythrocyte S-adenosylhomocysteine hydrolase by 2'-deoxyadenosine in adenosine deaminase-deficient patients.腺苷脱氨酶缺乏患者中2'-脱氧腺苷对红细胞S-腺苷同型半胱氨酸水解酶的体内失活作用
J Clin Invest. 1979 Apr;63(4):807-11. doi: 10.1172/JCI109367.
引用本文的文献
1
G Protein-Coupled Receptors in Osteoarthritis.G 蛋白偶联受体在骨关节炎中的作用。
Front Endocrinol (Lausanne). 2022 Jan 28;12:808835. doi: 10.3389/fendo.2021.808835. eCollection 2021.
2
Adenosine metabolism, immunity and joint health.腺苷代谢、免疫与关节健康。
Biochem Pharmacol. 2018 May;151:307-313. doi: 10.1016/j.bcp.2018.02.002. Epub 2018 Feb 7.
3
[18F]CFA as a clinically translatable probe for PET imaging of deoxycytidine kinase activity.[18F]CFA作为一种可临床转化的探针，用于脱氧胞苷激酶活性的PET成像。
Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4027-32. doi: 10.1073/pnas.1524212113. Epub 2016 Mar 28.
4
Inborn errors of the development of human natural killer cells.先天性人类自然杀伤细胞发育异常。
Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):589-95. doi: 10.1097/ACI.0000000000000011.
5
Adenosine modulates Toll-like receptor function: basic mechanisms and translational opportunities.腺苷调节 Toll 样受体功能：基础机制与转化机会。
Expert Rev Anti Infect Ther. 2011 Feb;9(2):261-9. doi: 10.1586/eri.10.158.
6
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients.细胞内和细胞外信号改变导致腺苷脱氨酶严重联合免疫缺陷（ADA-SCID）患者的T细胞功能受损。
Blood. 2008 Apr 15;111(8):4209-19. doi: 10.1182/blood-2007-05-092429. Epub 2008 Jan 24.
7
Biochemical and functional abnormalities in lymphocytes from an adenosine deaminase-deficient patient during enzyme replacement therapy.腺苷脱氨酶缺乏症患者在酶替代治疗期间淋巴细胞的生化及功能异常
J Clin Invest. 1981 Aug;68(2):413-21. doi: 10.1172/jci110270.
8
A new procedure for haptenizing adenosine leading to a more specific radioimmunoassay method.一种使腺苷半抗原化的新方法，该方法可产生更特异的放射免疫分析方法。
Biochem J. 1982 Dec 15;208(3):603-10. doi: 10.1042/bj2080603.
9
Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients.对于腺苷脱氨酶缺乏症患者，骨髓移植只能使嘌呤代谢产物部分恢复正常。
J Clin Invest. 1981 Dec;68(6):1387-93. doi: 10.1172/jci110389.
10
Renal handling of 2'-deoxyadenosine and adenosine in humans and mice.人类和小鼠中2'-脱氧腺苷和腺苷的肾脏处理
Cancer Chemother Pharmacol. 1982;8(2):221-9. doi: 10.1007/BF00255488.
本文引用的文献
1
A rapid quantitative determination of deoxyribonucleoside triphosphates based on the enzymatic synthesis of DNA.基于DNA酶促合成的脱氧核糖核苷三磷酸快速定量测定。
Biochim Biophys Acta. 1969 Feb 18;174(2):585-90. doi: 10.1016/0005-2787(69)90288-3.
2
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.两名细胞免疫严重受损患者的腺苷脱氨酶缺乏症。
Lancet. 1972 Nov 18;2(7786):1067-9. doi: 10.1016/s0140-6736(72)92345-8.
3
Severe combined immunodeficiency and adenosine deaminase deficiency.重症联合免疫缺陷与腺苷脱氨酶缺乏症
N Engl J Med. 1975 Apr 3;292(14):714-9. doi: 10.1056/NEJM197504032921402.
4
Combined immunodeficiency disease associated with adenosine deaminase deficiency. Report on a workshop held in Albany, New York, October 1, 1973.与腺苷脱氨酶缺乏相关的联合免疫缺陷病。1973年10月1日在纽约奥尔巴尼举行的研讨会报告。
J Pediatr. 1975 Feb;86(2):169-81. doi: 10.1016/s0022-3476(75)80463-x.
5
Purine metabolism in adenosine deaminase deficiency.腺苷脱氨酶缺乏症中的嘌呤代谢
Proc Natl Acad Sci U S A. 1976 Aug;73(8):2867-71. doi: 10.1073/pnas.73.8.2867.
6
Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency.腺苷脱氨酶缺乏症和严重联合免疫缺陷的酶替代疗法。
N Engl J Med. 1976 Dec 9;295(24):1337-43. doi: 10.1056/NEJM197612092952402.
7
8
Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme.无免疫缺陷的红细胞腺苷脱氨酶缺乏症。不稳定突变酶的证据。
J Clin Invest. 1979 Oct;64(4):1130-9. doi: 10.1172/JCI109552.
9
Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.腺苷脱氨酶缺乏症：成功进行骨髓移植后患者红细胞中腺嘌呤脱氧核苷酸的消失。
J Clin Invest. 1978 Dec;62(6):1386-9. doi: 10.1172/JCI109259.
10
In vivo and in vitro effects of thymosin and adenosine deaminase on adenosine-deaminase-deficient lymphocytes.胸腺素和腺苷脱氨酶对腺苷脱氨酶缺陷淋巴细胞的体内和体外作用。
N Engl J Med. 1979 Feb 22;300(8):387-92. doi: 10.1056/NEJM197902223000802.
Zotero 插件