CAJ | 학술논문

目的探讨串联质谱的定量检测在发育迟缓患儿早期诊断中的应用价值.方法应用串联质谱方法对155例发育迟缓患儿进行血氨基酸和酰基肉碱的定量检测,并分析检出结果与临床症状及治疗转归情况.结果 155例患儿中确诊10例氨基酸及肉碱缺乏疾病.其中4例确诊为甲基丙二酸血症,1例丙酸血症,l例中链酰基辅酶A脱氢酶缺乏症,1例鸟氨酸氨甲酰转移酶缺乏症,3例苯丙酮尿症.临床表现主要为运动及智力发育迟缓.经过治疗,大部分好转.结论对氨基酸及肉碱的检测,有利于运动及发育迟缓患儿的病因诊断及疗效判断.
목적 탐토천련질보적정량검측재발육지완환인조기진단중적응용개치.방법 응용천련질보방법대155례발육지완환인진행혈안기산화선기육감적정량검측,병분석검출결과여림상증상급치료전귀정황.결과 155례환인중학진10례안기산급육감결핍질병.기중4례학진위갑기병이산혈증,1례병산혈증,l례중련선기보매A탈경매결핍증,1례조안산안갑선전이매결핍증,3례분병동뇨증.림상표현주요위운동급지력발육지완.경과치료,대부분호전.결론 대안기 산급육감적검측,유리우운동급발육지완환인적병인진단급료효판단.
Objective To develop the clinical application of tandem mass spectrometry in earlystage diagnosis of patients with growth retardation.Methods Tandem mass spectrometry was used to quantitatively detect blood amino acids and acyl carnitine in 155 cases of children with growth retardation.The tandem mass spectrometry results,clinical symptoms,and treatment tracking results were analyzed.Results Ten patients with inborn metabolic absence of amino acids and acyl carnitine were confirmed including four cases of methylmalonic acidemia,one case of propionic acidemia,one case of medium-chain acyl-coenzyme A dehydrogenase deficiency,one case of ornithine transcarbamylase deficiency,and three cases of phenylketonuria.Conclusions Tandem mass spectrometry was helpful for some patients in etiologic diagnosis and therapeutic effect assessment of cerebral developmental retardation.