重症监护病房新生儿有机酸代谢疾病临床分析

Clinical analysis of organic acidemia in neonates from neonatal intensive care units

目的对重症监护病房新生儿有机酸代谢异常的临床特征进行分析,以提高临床医生对此类疾病的早期识别和早期诊断能力。方法对2008年6月至2011年8月河南省15家医院新生儿重症监护室采用气相色谱-质谱分析确诊为有机酸代谢异常病例的临床特点进行回顾性分析。结果送检疑似病例287例,筛查考虑遗传代谢性疾病50例,其中有机酸血症病例32例,包括甲基丙二酸血症28例,丙酸血症2例,枫糖尿症1例,异戊酸血症1例。患儿发病多在生后1周内(75%),出生后当时或数小时内即发病者,病情危重。患儿临床表现多样,主要涉及神经系统、呼吸系统或消化系统症状,如反应差、昏迷、嗜睡、肌张力异常、惊厥、气促、呼吸困难、拒乳、腹泻、黄疸等。首发症状以呼吸困难、反应差、拒乳、嗜睡、抽搐为主,无特异性。结论甲基丙二酸血症是一种最常见的新生儿期遗传代谢疾病。新生儿期起病的有机酸代谢异常类疾病临床表现无特异性,发病早者病情重。

Objective To study the clinical features of organic acidemia in neonates admitted to the intensive care unit. Methods The clinical features of neonates from 15 neonatal intensive care units of Henan Province, who were diagnosed with congenital organic aeidemia by gaschromatography-mass spectrometry （GC-MS） between June 2008 and August 2011 were retrospectively reviewed. Results Fifty neonates of 287 high risk neonates were confirmed as having or highly suspected to have inborn errors of metabolism. Of the 50 cases, 32 cases were diagnosed with organic acidemia disease, including 28 cases of methylmalonic acidemia, 2 cases of propionic acidemia, 1 case of maple syrup urine disease and 1 case of isovalerie acldemla. In most cases, disease onset occurred in the first week after birth in most of cases （75%）. Neonates whose symptoms occurred immediately after or within a few hours of birth presented with serious conditions. Clinical manifestations were various and mainly related to neurologic, respiratory and gastrointestinal symptoms such as poor response, coma, drowsiness, abnormal muscle tone, convulsions, polypnea, dyspnea, milk refusal, diarrhea and jaundice. Initial symptoms were non-specific and included dyspnea, poor response, milk refusal, lethargy and seizures. Conclusions Methylmalonic acidemia is a common inherited metabolic disease in the neonatal period. Clinical manifestations of organic acid metabolism abnormalities in neonates are atypical and early onset is associated with more serious conditions.