Hawrot-Kawecka Anna M, Kawecki Grzegorz P, Duława Jan
Z Kliniki Chorób Wewnqtrznych i Metabolicznych Slaskiej Akademii Medycznej, Katowicach.
Wiad Lek. 2006;59(7-8):512-5.
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.
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。