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新生儿期急性代谢危机的诊断与治疗

[Diagnosis and therapy of acute metabolic crisis in the neonatal period].

作者信息

Sperl W, Dóczy L, Fischer H

机构信息

Universitäts-Kinderklinik, Innsbruck.

出版信息

Padiatr Padol. 1991;26(1):13-7.

PMID:2057206
Abstract

Important for the clinical outcome of an acute metabolic crisis in the newborn infant are early diagnosis and specific therapeutic measures. A selective screening procedure for the diagnosis of disorders in amino and organic acid metabolism, for beta-oxidation and urea cycle defects and mitochondriopathies is necessary. Gas chromatography/mass spectrometry is the leading diagnostic tool in this screening procedure. During the last six years ten patients with an acute metabolic crisis in the newborn period were observed at the Children's Hospital at the University of Innsbruck. In seven of them the onset of the disease occurred within the first week of life. Initially the most important therapeutic measures were withdrawal of food, induction of anabolism and specific detoxification. In our experience continuous arteriovenous hemofiltration has proved to be an efficient and applicable method for elimination of toxic metabolites in the acute crisis of a newborn infant.

摘要

对于新生儿急性代谢危机的临床结果而言,早期诊断和特定治疗措施至关重要。有必要采用选择性筛查程序来诊断氨基酸和有机酸代谢紊乱、β-氧化和尿素循环缺陷以及线粒体病。气相色谱/质谱法是该筛查程序中的主要诊断工具。在过去六年中,因斯布鲁克医科大学儿童医院观察到10例新生儿期急性代谢危机患者。其中7例在出生后第一周内发病。最初,最重要的治疗措施是停止喂食、诱导合成代谢和特定解毒。根据我们的经验,连续动静脉血液滤过已被证明是在新生儿急性危机中清除有毒代谢物的一种有效且适用的方法。

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