【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(xiàn)資料,對3種不同類型UCDs的臨床特點(diǎn)及診療經(jīng)過進(jìn)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(shí)均被誤診為其他疾病。5例患兒發(fā)病前有可疑進(jìn)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�；純喝朐簳r(shí)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(yùn)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(jī)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(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2016
【分類號】：R725.8

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