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。
Abstract
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 acidemia 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 isovaleric 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.
关键词
有机酸血症 /
临床特点 /
新生儿
Key words
Organic acidemia /
Clinical feature /
Neonate
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参考文献
［1］Prust MJ, Gropman AL, Hauser N. New frontiers in neuroimaging applications to inborn errors of metabolism［J］. Mol Genet Metab, 2011, 104(3): 195-205.
［2］杨军，李军，刘勇，蔡爱东，周兆群，江涛.儿科重症监护病房遗传代谢病临床研究(附18例报告) ［J］.南京医科大学学报(自然科学版)，2010，30（1）：94-95.
［3］王欣煜，涂文军，李瑛.新生儿重症监护病房遗传代谢病分析［J］.中国优生与遗传杂志，2010，18（4）:111-112.
［4］李启亮，徐樨巍，宋文琪.液相色谱-质谱分析技术在遗传代谢病筛查中的应用［J］.中国实用儿科杂志，2009，24（3）：238-240.
［5］Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, et al. Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China ［J］. Clin Biochem, 2008, 41 (7-8): 616-620.
［6］谢利娟，朱建幸，朱晓东，李华军，韩连书，顾学范.经高危筛查发现的遗传性代谢病15例分析［J］.中国当代儿科杂志,2008，10(2)：31-34.
［7］Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, et al. Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report［J］. Clin Chim Acta, 2005, 354(1-2): 167-180.
［8］ Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, et al. Research challenges in central nervous system manifestations of inborn errors of metabolism［J］. Mol Genet Metab, 2011, 102(3): 326-338.
［9］Campeau PM, Scriver CR, Mitchell JJ. A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism［J］. Mol Genet Metab, 2008, 95 (9): 11-16.
［10］Joshi SN, Venugopalan P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman［J］. Brain Dev, 2007, 29(9): 543-546.
［11］Tu WJ. Methylmalonic Acidemia in Mainland China［J］. Ann Nutr Metab, 2011, 58(4): 281.
［12］Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, Macleod E.Neurologic considerations in propionic acidemia［J］. Mol Genet Metab, 2012, 105(1): 10-15.
［13］Eyaid WM, Al-Nouri DM, Rashed MS, Al-Rifai MT, Al-Wakeel AS. An inborn error of metabolism presenting as hypoxic-ischemic insult ［J］. Pediatr Neurol, 2005, 32(2): 134-136.
［14］Ibarra-González I, FernándezLainez C, Vela-Amieva M.Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country［J］. Clin Biochem, 2010, 43(4-5): 461-466.
［15］梁雁，罗小平.遗传代谢病的诊治进展［J］.中国实用儿科杂志,2004,19（10）:577-580.
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