一名患有精氨基琥珀酸尿症的新生儿的腹膜透析和换血疗法
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria.
作者信息
Francois B, Cornu G, de Meyer R
出版信息
Arch Dis Child. 1976 Mar;51(3):228-31. doi: 10.1136/adc.51.3.228.
Abstract
Peritoneal dialysis rapidly reduced blood ammonia concentration in this child with arginino-succinic acid-lyase deficiency, whereas exchange transfusion did not. Yet this reduction in plasma ammonia level did not produce clinical improvement. We speculate that the effects of ammonia intoxication on the highly susceptible neonatal metabolism are due to an accumulation of toxic products and to an altered energy metabolism. Both aspects must be considered in any attempt to treat congenital hyperammonaemia.
摘要
腹膜透析迅速降低了这名患有精氨酸琥珀酸裂解酶缺乏症儿童的血氨浓度，而换血疗法却未能达到这一效果。然而，血浆氨水平的这种降低并未带来临床症状的改善。我们推测，氨中毒对高度易损的新生儿代谢产生影响是由于有毒产物的蓄积以及能量代谢的改变。在任何治疗先天性高氨血症的尝试中，都必须考虑到这两个方面。
相似文献
1
Peritoneal dialysis and exchange transfusion in a neonate with argininosuccinic aciduria.一名患有精氨基琥珀酸尿症的新生儿的腹膜透析和换血疗法
Arch Dis Child. 1976 Mar;51(3):228-31. doi: 10.1136/adc.51.3.228.
2
[Attempt at antenatal diagnosis of argininosuccinic aciduria].[精氨琥珀酸尿症的产前诊断尝试]
Ann Genet. 1976 Mar;19(1):23-7.
3
First case of argininosuccinic aciduria in Japan: clinical observations and treatment.日本首例精氨琥珀酸尿症：临床观察与治疗
Adv Exp Med Biol. 1982;153:95-100. doi: 10.1007/978-1-4757-6903-6_12.
4
Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.新生儿精氨琥珀酸尿症，脑和肾正常，但肝脏精氨琥珀酸裂解酶活性缺失。
Am J Hum Genet. 1976 Jan;28(1):22-30.
5
Citrate therapy in argininosuccinate lyase deficiency.精氨琥珀酸裂解酶缺乏症中的柠檬酸盐疗法。
J Pediatr. 1990 Jul;117(1 Pt 1):102-5. doi: 10.1016/s0022-3476(05)82456-4.
6
Therapy of urea cycle enzymopathies: three case studies.尿素循环酶病的治疗：三个病例研究。
Johns Hopkins Med J. 1981 Jan;148(1):34-40.
7
Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.精氨酸治疗对瓜氨酸血症新生儿高氨血症的前瞻性预防
J Inherit Metab Dis. 1985;8(1):18-20. doi: 10.1007/BF01805478.
8
Argininosuccinic aciduria in adult: a clinical, electrophysiological and biochemical study.成人精氨酸琥珀酸尿症：一项临床、电生理及生化研究。
Adv Exp Med Biol. 1982;153:83-93. doi: 10.1007/978-1-4757-6903-6_11.
9
Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts.人类成纤维细胞中精氨琥珀酸合成酶和精氨琥珀酸裂解酶缺陷的互补性研究。
Hum Genet. 1981;57(3):282-4. doi: 10.1007/BF00278945.
10
Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria.两名精氨酸琥珀酸尿症患者肝脏中精氨酸琥珀酸裂解酶蛋白缺失。
Clin Chim Acta. 1986 Aug 30;159(1):59-67. doi: 10.1016/0009-8981(86)90166-x.
引用本文的文献
1
Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.儿童连续性肾脏替代治疗患者高血氨管理的共识指南。
Nat Rev Nephrol. 2020 Aug;16(8):471-482. doi: 10.1038/s41581-020-0267-8. Epub 2020 Apr 8.
2
Short-term survival of hyperammonemic neonates treated with dialysis.接受透析治疗的高氨血症新生儿的短期存活率。
Pediatr Nephrol. 2015 May;30(5):839-47. doi: 10.1007/s00467-014-2945-x. Epub 2014 Sep 4.
3
Peritoneal dialysis in neonates with inborn errors of metabolism: is it really out of date?患有先天性代谢缺陷的新生儿的腹膜透析：它真的过时了吗？
Pediatr Nephrol. 2008 Jan;23(1):163-8. doi: 10.1007/s00467-007-0607-y. Epub 2007 Sep 26.
4
Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.尝试对一名因鸟氨酸转移酶缺乏导致高氨血症的男孩进行饮食治疗。
Eur J Pediatr. 1978 Jul 19;128(4):261-72. doi: 10.1007/BF00445611.
本文引用的文献
1
The estimation of plasma ammonia by ion exchange.通过离子交换法测定血浆氨。
Clin Chim Acta. 1962 Mar;7:163-75. doi: 10.1016/0009-8981(62)90004-9.
2
Determination of argininosuccinic acid by ion-exchange chromatography.
Nature. 1961 Nov 11;192:555-6. doi: 10.1038/192555a0.
3
Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.尿素合成的比较生物化学。I. 肝脏中尿素循环酶的定量测定方法。
J Biol Chem. 1959 Jul;234(7):1769-74.
4
Hereditary hyperammonaemia.
Brain. 1970;93(2):423-34. doi: 10.1093/brain/93.2.423.
5
Metabolism of compounds labeled with 15 N by an infant with congenital hyperammonemia.
Pediatr Res. 1972 Apr;6(4):252-60. doi: 10.1203/00006450-197204000-00007.
6
The inhibition of rat brain ATP: citrate oxaloacetate-lyase by L-glutamate.L-谷氨酸对大鼠脑ATP：柠檬酸草酰乙酸裂解酶的抑制作用。
J Neurochem. 1974 Jan;22(1):85-91. doi: 10.1111/j.1471-4159.1974.tb12182.x.
7
8
Peritoneal clearance of ammonia and creatinine in a neonate.
J Pediatr. 1973 Jun;82(6):1044-6. doi: 10.1016/s0022-3476(73)80440-8.
Zotero 插件