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伴有中性粒细胞减少症的Ⅱ型瓜氨酸血症。

Type II citrullinemia associated with neutropenia.

作者信息

Kamiya Y, Horikoshi T, Takagi H, Okada S, Hashimoto K, Kido C, Takehara K, Nagamine T, Sekiguchi T, Mori M

机构信息

First Department of Internal Medicine, Gunma University School of Medicine, Maebashi.

出版信息

Intern Med. 1995 Jul;34(7):679-82. doi: 10.2169/internalmedicine.34.679.

DOI:10.2169/internalmedicine.34.679
PMID:7496085
Abstract

A 37-year-old Japanese man was admitted with delirium and hyperammonemia. He was diagnosed as having type II citrullinemia because of an elevated citrulline level on amino acid analysis and very low hepatic argininosuccinate synthetase activity. He also showed a low neutrophil count and a low serum level of granulocyte colony-stimulating factor. Reduced production of this cytokine and/or impairment of its feedback regulation by the neutrophil count may have played a role in the neutropenia of this patient.

摘要

一名37岁的日本男性因谵妄和高氨血症入院。由于氨基酸分析显示瓜氨酸水平升高且肝脏精氨琥珀酸合成酶活性极低,他被诊断为II型瓜氨酸血症。他还表现出中性粒细胞计数低和血清粒细胞集落刺激因子水平低。这种细胞因子产生减少和/或其受中性粒细胞计数的反馈调节受损可能在该患者的中性粒细胞减少中起了作用。

相似文献

1
Type II citrullinemia associated with neutropenia.伴有中性粒细胞减少症的Ⅱ型瓜氨酸血症。
Intern Med. 1995 Jul;34(7):679-82. doi: 10.2169/internalmedicine.34.679.
2
[Adult-onset type II citrullinemia in a patient undergoing continuous ambulatory peritoneal dialysis].
Rinsho Shinkeigaku. 1998 Sep;38(9):826-30.
3
[Type II citrullinemia triggered by acetaminophen].[对乙酰氨基酚引发的II型瓜氨酸血症]
No To Shinkei. 1993 Sep;45(9):865-70.
4
An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemia.
Intern Med. 1999 Jul;38(7):590-6. doi: 10.2169/internalmedicine.38.590.
5
[A case of citrullinemia associated with isolated ACTH deficiency, rapidly developing coma].[一例与孤立性促肾上腺皮质激素缺乏相关的瓜氨酸血症,迅速发展为昏迷]
Rinsho Shinkeigaku. 1992 Aug;32(8):853-8.
6
Increased urinary excretion of argininosuccinate in type II citrullinemia.II型瓜氨酸血症中精氨琥珀酸尿排泄增加。
Clin Chim Acta. 1987 Dec;170(2-3):297-304. doi: 10.1016/0009-8981(87)90140-9.
7
Citrullinemia: quantitative deficiency of argininosuccinate synthetase in the liver.瓜氨酸血症:肝脏中精氨琥珀酸合成酶定量缺乏。
Tohoku J Exp Med. 1986 Apr;148(4):385-91. doi: 10.1620/tjem.148.385.
8
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia.瓜氨酸血症中精氨琥珀酸合成酶的定性和定量异常
Clin Chim Acta. 1981 Feb 5;109(3):325-35. doi: 10.1016/0009-8981(81)90318-1.
9
Citrullinemia, argininosuccinate synthetase deficiency. Repository identification No. GM-1044.瓜氨酸血症,精氨琥珀酸合成酶缺乏症。储存库识别号:GM-1044。
Cytogenet Cell Genet. 1977;19(1):51-52. doi: 10.1159/000130796.
10
[Citrullinemia].[瓜氨酸血症]
Ryoikibetsu Shokogun Shirizu. 2001(33):452-4.

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