CAJ | 학술논문

目的探讨新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床及病理特征.方法分析新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床表现、病理改变及串联质谱(MS-MS)分析检测,并复习相关文献.结果尸检发现新生儿除肌肉出现大量脂肪滴之外,其他全身各个重要脏器心、肝、脾、肾等均有不同程度的脂肪空泡沉积.串联质谱(MS-MS)分析检测报告均符合肉碱棕榈酰转移酶Ⅱ缺乏症检测指标改变.结论新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症病情危重,为全身系统性疾病;诊断本疾病需结合临床、病理及实验室等各项检查.
목적 탐토신생인형육감종려선전이매Ⅱ결핍증적림상급병리특정.방법 분석신생인형육감종려선전이매Ⅱ결핍증적림상표현、병리개변급천련질보(MS-MS)분석검측,병복습상관문헌.결과 시검발현신생인제기육출현대량지방적지외,기타전신각개중요장기심、간、비、신등균유불동정도적지방공포침적.천련질보(MS-MS)분석검측보고균부합육감종려선전이매Ⅱ결핍증검측지표개변.결론 신생인형육감종려선전이매Ⅱ결핍증병정위중,위전신계통성질병;진단본질병수결합림상、병리급실험실등각항검사.
Objective To investigate the clinical and pathological of carnitine palmitoyl transferase deficiency Ⅱ .Methods We reviewed related literature and analyzed the clinical manifestation,pathological changes of this disease, and sent to tandem mass spectrometry(MS-MS)analysis of detection,Results The important organs such as heart, liver, spleen and kidney all have steatosis, except muscle. Tandem mass spectrometry (MS-MS) analysis wasconsistent with its changes.Conclusion Neonatal carnitine palmitoyl transferase deficiency Ⅱ has critical condition and also a systemic disease. Diagnosis of the disease need to combine with clinical, pathological and laboratory examination, etc.