Suppr超能文献

[以II型高氨血症为例的尿素循环障碍]

[Hyperammonemia type II as an example of urea cycle disorder].

作者信息

Hawrot-Kawecka Anna M, Kawecki Grzegorz P, Duława Jan

机构信息

Z Kliniki Chorób Wewnqtrznych i Metabolicznych Slaskiej Akademii Medycznej, Katowicach.

出版信息

Wiad Lek. 2006;59(7-8):512-5.

Abstract

Ornithine transcarbamylase deficiency is the most common inherited urea cycle disorder. Its clinical manifestations as lethargy, vomites, coma and cerebral edema are the effect of the higher concentration of the ammonia in plasma. Hyperammonemia, caused by mutation in ornithine transcarbamylase gene, is often considered as a reason of coma by pediatricians but skipped by internist, although it is the third reason of hepatic coma in adults. This article is the recapitulation of published studies and their implication on everyday clinical practice.

摘要

鸟氨酸转氨甲酰酶缺乏症是最常见的遗传性尿素循环障碍。其临床表现如嗜睡、呕吐、昏迷和脑水肿是血浆中氨浓度升高的结果。鸟氨酸转氨甲酰酶基因突变引起的高氨血症,常被儿科医生视为昏迷的原因,但内科医生却忽略了,尽管它是成人肝昏迷的第三个原因。本文是已发表研究及其对日常临床实践影响的综述。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验