發(fā)布時間：2018-11-04 10:42

【摘要】：目的:分析兒童尿素循環(huán)障礙(urea cycle disorders,UCDs)的臨床資料,以提高對該病的診治水平。方法:回顧分析6例尿素循環(huán)障礙患兒臨床資料,并結(jié)合文獻資料,對3種不同類型UCDs的臨床特點及診療經(jīng)過進行分析。結(jié)果:6例患兒中男女各3例,均為新生兒期后起病,發(fā)病年齡從1+月~8歲,入院時均被誤診為其他疾病。5例患兒發(fā)病前有可疑進食高蛋白食物或上呼吸道感染史;5例出現(xiàn)不同程度的意識障礙,4例有驚厥發(fā)作,4例有嘔吐,2例伴有呼吸節(jié)律改變;6例患兒中,3例有異常家族史。患兒入院時血氨濃度波動于10-413umol/L,住院期間血氨峰濃度波動于10-1714umol/L,4例伴有肝功能損害;血串聯(lián)質(zhì)譜及尿氣相色譜檢查6例均異常�；驒z查結(jié)果示鳥氨酸氨基甲酰轉(zhuǎn)移酶缺乏癥(OTCD)4例,氨甲酰磷酸合成酶I缺乏癥(CPSID)及citrin蛋白缺乏癥(CD)各1例。隨訪患兒生存質(zhì)量,1例患兒死亡,2例出現(xiàn)智力運動倒退。結(jié)論:尿素循環(huán)障礙患兒臨床表現(xiàn)無特異性,易與其他疾病混淆。血氨濃度測定是篩查該病的首要檢查,血串聯(lián)質(zhì)譜檢查及尿有機酸氣相色譜檢查有助于疾病的診斷及分型,但確診仍需基因檢查。
[Abstract]:Objective: to analyze the clinical data of urea circulatory disorder (urea cycle disorders,UCDs) in children in order to improve the diagnosis and treatment of the disease. Methods: the clinical data of 6 children with urea circulatory disorder were analyzed retrospectively, and the clinical characteristics and diagnosis and treatment of three different types of UCDs were analyzed. Results: of the 6 cases, 3 cases were male and female, all of them were born after neonatal stage, the onset age ranged from 1 month to 8 years old, and were misdiagnosed as other diseases on admission. 5 cases had suspicious history of consuming high protein food or upper respiratory tract infection before onset. 5 cases had different degree of consciousness disorder, 4 cases had convulsion, 4 cases had vomiting, 2 cases had respiratory rhythm change, 3 cases had abnormal family history. The serum ammonia concentration fluctuated from 10-413umol/ L to 10-1714umoll / L during hospitalization in 4 cases with liver dysfunction, and 6 cases were abnormal by tandem mass spectrometry and urine gas chromatography. Gene examination showed that there were 4 cases of ornithine carbamyltransferase deficiency (OTCD), 1 case of carbamyl phosphate synthase I deficiency (CPSID) and 1 case of citrin protein deficiency (CD). Quality of life (QOL) was followed up in 1 case, 2 cases showed mental motor regression. Conclusion: the clinical manifestation of urea circulatory disorder in children is not specific and is easily confused with other diseases. The determination of blood ammonia concentration is the primary examination for screening the disease. Blood tandem mass spectrometry and urine organic acid gas chromatography are helpful for the diagnosis and typing of the disease, but the diagnosis still needs genetic examination.
【學位授予單位】：重慶醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2016
【分類號】：R725.8

【相似文獻】

相關(guān)期刊論文 前10條

1 劉希娟;王華;周曉薇;;兒童尿素循環(huán)障礙1例[J];中國醫(yī)科大學學報;2011年08期

2 森正敬;;遺傳性尿素循環(huán)障礙的分子生物學分析[J];國外醫(yī)學情報;1987年02期

3 包美珍;尿素循環(huán)障礙疾病[J];國外醫(yī)學.內(nèi)分泌學分冊;2002年05期

4 楊艷玲,孫芳,錢寧,宋金青,王爽,常杏芝,楊宏云,王淑琴,李龍,張月華,包新華,李明,戚豫,秦炯,吳希如;尿素循環(huán)障礙的臨床和實驗室篩查研究[J];中華兒科雜志;2005年05期

5 伍俐亭;李維君;;尿素循環(huán)障礙1例臨床營養(yǎng)管理[J];江西醫(yī)藥;2014年04期

6 楊艷玲,常俊霞,袁云,張月華,錢寧,宋金青,秦炯;遲發(fā)型尿素循環(huán)障礙的臨床與實驗室研究[J];中華神經(jīng)科雜志;2004年02期

7 周平;宋元宗;肖昕;柳國勝;;鳥氨酸氨甲�；D(zhuǎn)移酶缺陷病1例[J];實用兒科臨床雜志;2006年08期

8 趙彥;黃樂;楊斌;;尿素循環(huán)障礙繼發(fā)肉堿缺乏癥1例[J];河北醫(yī)藥;2011年16期

9 翁莉;陳玉林;余章斌;季晨博;韓樹萍;孫青;;新生兒高氨血癥及尿素循環(huán)障礙的早期識別與護理[J];護理學雜志;2013年09期

10 尹向云;薛辛東;富建華;;先天性尿素循環(huán)障礙——新生兒瓜氨酸血癥1例[J];中國實用兒科雜志;2010年05期

相關(guān)會議論文 前1條

1 劉曉景;衛(wèi)海燕;李春枝;張耀東;;遲發(fā)型先天性鳥氨酸氨甲酰基轉(zhuǎn)移酶缺陷病臨床及家系分析[A];第十二次全國醫(yī)學遺傳學學術(shù)會議論文匯編[C];2014年

相關(guān)碩士學位論文 前2條

1 華夏;兒童尿素循環(huán)障礙臨床特點及診治分析[D];重慶醫(yī)科大學;2016年

2 周志紅;GC-MS在尿素循環(huán)障礙診斷和治療中的應用研究[D];暨南大學;2008年

，

本文編號：2309580