%0 Journal Article
%T 鸟氨酸氨甲酰基转移酶缺乏症治疗的研究进展<br>Research Progress in the Treatment of Ornithine Transcarbamylase Deficiency
%A 卫婧雅
%A 任鲜卉
%J Advances in Clinical Medicine
%P 8235-8242
%@ 2161-8720
%D 2022
%I Hans Publishing
%R 10.12677/ACM.2022.1291187
%X 鸟氨酸转氨甲酰酶缺乏症(OTCD)是一种遗传性的尿素循环障碍，死亡率高。它是一种代谢疾病，主要表现为高氨血症，血瓜氨酸降低及尿乳清酸升高。可出现癫痫、意识障碍、认知障碍等临床症状。药物治疗和透析可以降低血氨水平。肝移植可以提高患者的长期生存率，但不能逆转之前已经发生的神经系统损伤。基因治疗是一种新的研究方向，目前仍未运用于临床。本文就OTCD治疗的研究进展作一简要概述。<br />
Ornithine transcarbamylase deficiency (OTCD) is a kind of genetic urea cycle disorder with a high mortality. It’s a metabolic disease manifested as hyperammonemia, decreased blood citrulline and increased urine orotic acids. Symptoms such as epilepsy, disturbance of consciousness, and cogni-tive impairment appear in OTCD. Drugs and dialysis can lower the blood ammonia level. Liver transplantation can improve the long-term survival rate of patients, but it cannot reverse the nervous system damage that has occurred before. Gene therapy is a research direction that has not yet been used in clinical practice. This article briefly summarizes the research progress of OTCD treatment.
%K 鸟氨酸氨甲酰基转移酶缺乏症，尿素循环障碍，肝移植，基因治疗<br>Ornithine Transcarbamylase Deficiency
%K Urea Cycle Disorder
%K Liver Transplantation
%K Gene Therapy
%U http://www.hanspub.org/journal/PaperInformation.aspx?PaperID=55611