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通过半自动毛细管气液色谱法对导致先天性肾上腺增生的各种酶缺陷进行诊断和治疗监测。

Diagnosis and monitoring of therapy of the various enzymatic defects causing congenital adrenal hyperplasia by semiautomatic capillary gas-liquid chromatography.

作者信息

Knorr D, Bidlingmaier F, Kuhnle U

出版信息

Horm Res. 1982 Jul-Aug;16(4):201-8. doi: 10.1159/000179503.

DOI:10.1159/000179503
PMID:6982215
Abstract

A semiautomatic capillary gas-liquid chromatographic method for the determination of urinary steroids has been developed. Trimethylsilylenol ethers were used as steroid derivatives instead of the more common methoxime trimethylsilyl ethers. The diagnosis of the various enzymatic defects causing congenital adrenal hyperplasia can be made using the characteristic pattern of urinary steroid chromatograms. Furthermore, the method presented can be used routinely to monitor therapeutic control in congenital adrenal hyperplasia. Reference data for patients of different age groups under good therapeutic control are presented.

摘要

已开发出一种用于测定尿甾体类化合物的半自动毛细管气-液色谱法。使用三甲基硅烯醇醚作为甾体衍生物,而非更为常用的甲氧肟三甲基硅醚。利用尿甾体类化合物色谱图的特征模式,可对导致先天性肾上腺皮质增生的各种酶缺陷进行诊断。此外,所提出的方法可常规用于监测先天性肾上腺皮质增生的治疗控制情况。还给出了处于良好治疗控制下不同年龄组患者的参考数据。

相似文献

1
Diagnosis and monitoring of therapy of the various enzymatic defects causing congenital adrenal hyperplasia by semiautomatic capillary gas-liquid chromatography.通过半自动毛细管气液色谱法对导致先天性肾上腺增生的各种酶缺陷进行诊断和治疗监测。
Horm Res. 1982 Jul-Aug;16(4):201-8. doi: 10.1159/000179503.
2
Capillary gas chromatography as a tool for characterization of urinary steroid excretion in patients with congenital adrenal hyperplasia.毛细管气相色谱法作为先天性肾上腺皮质增生症患者尿类固醇排泄特征分析的工具。
J Steroid Biochem. 1985 Mar;22(3):363-9. doi: 10.1016/0022-4731(85)90439-x.
3
Detection of 3 beta-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis.通过尿类固醇分析检测新生儿3β-羟基类固醇脱氢酶缺乏症。
Clin Chim Acta. 1987 Oct 30;169(1):109-16. doi: 10.1016/0009-8981(87)90399-8.
4
Detection of 3 beta-hydroxysteroid-dehydrogenase deficiency by urinary steroid profiling: solvolysis of urinary samples should be a necessary prerequisite.通过尿甾体谱分析检测3β-羟基类固醇脱氢酶缺乏症:尿液样本的溶剂分解应是必要的前提条件。
Clin Chim Acta. 1985 Feb 15;145(3):319-23. doi: 10.1016/0009-8981(85)90040-3.
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Urinary excretion of pregnanetriol and 5 -pregnenetriol in two forms of congenital adrenal hyperplasia.两种先天性肾上腺皮质增生症中孕三醇和5-孕烯三醇的尿排泄情况
J Clin Invest. 1971 Dec;50(12):2751-4. doi: 10.1172/JCI106777.
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Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency (NC-3BHSD).因3β-羟基类固醇脱氢酶缺乏(NC-3BHSD)导致的非经典型先天性肾上腺皮质增生症患者的尿5-烯类固醇排泄情况
J Steroid Biochem. 1990 May;35(6):735-9. doi: 10.1016/0022-4731(90)90316-k.
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Identification of 15 beta-hydroxylated C21 steroids in the neo-natal period: the role of 3 alpha,15 beta,17 alpha-trihydroxy-5 beta-pregnan-20-one in the perinatal diagnosis of congenital adrenal hyperplasia (CAH) due to a 21-hydroxylase deficiency.
J Steroid Biochem. 1981 Sep;14(9):901-12. doi: 10.1016/0022-4731(81)90239-9.
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The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern.
Clin Chim Acta. 1982 Apr 23;120(3):341-53. doi: 10.1016/0009-8981(82)90375-8.
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The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens.通过对随机尿液标本进行气相色谱/质谱分析诊断新生儿先天性肾上腺皮质增生症。
J Clin Endocrinol Metab. 2002 Aug;87(8):3682-90. doi: 10.1210/jcem.87.8.8712.
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[A simple method for the estimation of a urinary steroids profile using glass capillary gas chromatography with a solventless injection system].[一种使用带无溶剂进样系统的玻璃毛细管气相色谱法估算尿甾体谱的简单方法]
Nihon Naibunpi Gakkai Zasshi. 1983 May 20;59(5):801-14. doi: 10.1507/endocrine1927.59.5_801.

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