新生儿高氨血症的早期诊断及精准干预

doi:10.12372/jcp.2023.23e0164

Abstract

Abstract:

Neonatal hyperammonemia (NHA) is a neonatal critical disease with high neonatal mortality and rapid progression. During the neonatal period, increased blood ammonia can be caused by a variety of genetic and non-genetic disorders with complex causes, such as urea cycle disorders, organic acidemia, fatty acid metabolism disorders, and acquired hyperammonemia due to other serious systemic diseases. The presenting clinical features are not specific. Early detection and identification of etiology and precise intervention through feeding management, amino-reducing drug and hemodialysis can improve the prognosis.

Key words: hyperammonemia, urea cycle disorder, inherited metabolic disorder, encephalopathy, neonate

ZHANG Yongjun, ZHU Tianwen. Early diagnosis and precise intervention of neonatal hyperammonemia[J].Journal of Clinical Pediatrics, 2023, 41(4): 241-246.

References 36

[1]	Auron A, Brophy PD. Hyperammonemia in review: pathophysiology, diagnosis, and treatment[J]. Pediatr Nephrol, 2012, 27(2): 207-222. doi: 10.1007/s00467-011-1838-5 pmid: 21431427
[2]	Häberle. Clinical and biochemical aspects of primary and secondary hyperammonemic disorders[J]. Arch Biochem Biophys, 2013, 536(2): 101-108. doi: 10.1016/j.abb.2013.04.009 pmid: 23628343
[3]	Zimmer KP. Newborn screening: still room for improvement[J]. Dtsch Arztebl Int, 2021, 118(7): 99-100.
[4]	Demirkol D, Aktuluzeybek I, Karacabey BN, et al. The role of supportive treatment in the management of hyperammonemia in neonates and infants[J]. Blood Purification, 2019, 48(2): 1-8.
[5]	Mccabe E. Newborn screening system: Safety, technology, advocacy[J]. Mol Genet Metab, 2021, 134(1-2): 3-7. doi: 10.1016/j.ymgme.2021.07.003 pmid: 34384699
[6]	Summar ML, Mew NA. Inborn errors of metabolism with hyperammonemia: urea cycle defects and related disorders[J]. Pediatr Clin North Am, 2018, 65(2): 231-246. doi: 10.1016/j.pcl.2017.11.004
[7]	梁黎黎, 韩连书. 有机酸血症的诊治及筛查[J]. 发育医学电子杂志, 2020, 8(1): 6.
[8]	韩连书. 重视脂肪酸氧化代谢病的筛查与诊治[J]. 中国实用儿科杂志, 2019, 34(1): 5.
[9]	Butterworth RF. Effects of hyperammonaemia on brain function[J]. J Inherit Metab Dis, 1998, 21(Suppl 1): 6-20.
[10]	Ozanne B, Nelson J, Cousineau J, et al. Threshold for toxicity from hyperammonemia in critically ill children[J]. J Hepatol, 2012, 56(1): 123-128. doi: 10.1016/j.jhep.2011.03.021 pmid: 21703182
[11]	Peng MZ, Cai YN, Shao YX, et al. Simultaneous quantification of 48 plasma amino acids by liquid chromatography-tandem mass spectrometry to investigate urea cycle disorders[J]. Clin Chim Acta, 2019, 495: 406-416. doi: 10.1016/j.cca.2019.05.011
[12]	Häberle J, Burlina A, Chakrapani A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision[J]. J Inherit Metab Dis, 2019, 42(6): 1192-1230. doi: 10.1002/jimd.12100 pmid: 30982989
[13]	卫生部临床检验中心新生儿遗传代谢疾病筛查室间质量评价委员会. 新生儿疾病串联质谱筛查技术专家共识[J]. 中华检验医学杂志, 2019, 42(2): 9.
[14]	Lin Y, Zhang W, Huang C, et al. Increased detection of primary carnitine deficiency through second-tier newborn genetic screening[J]. Orphanet J Rare Dis, 2021, 16(1): 149. doi: 10.1186/s13023-021-01785-6 pmid: 33757571
[15]	Bleeker JC, Kok IL, Ferdinandusse S, et al. Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes[J]. J Inherit Metab Dis, 2019, 42(3): 414-423.
[16]	田国力, 周卓, 郭静, 等. 气相色谱-质谱联用技术在遗传代谢性疾病诊断中的应用[J]. 检验医学, 2019, 34(10): 5.
[17]	Capizzano AA, Sanchez A, Moritani T, et al. Hype-rammonemic encephalopathy: time course of MRI diffusion changes[J]. Neurology, 2012, 78(8): 600-601. doi: 10.1212/WNL.0b013e318247ccd1 pmid: 22351798
[18]	Gropman A. Brain imaging in urea cycle disorders[J]. Mol Genet Metab, 2010, 100(supp-S): S20-S30.
[19]	Häberle J, Boddaert N, Burlina A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders[J]. Orphanet J Rare Dis, 2012, 7: 32. doi: 10.1186/1750-1172-7-32 pmid: 22642880
[20]	Tuchman M, Lee B, Lichter-Konecki U, et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States[J]. Mol Genet Metab, 2008, 94(4): 397-402. doi: 10.1016/j.ymgme.2008.05.004 pmid: 18562231
[21]	Summar ML, Dobbelaere D, Brusilow S, et al. Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes[J]. Acta Paediatrica, 2008, 97(10): 1420-1425. doi: 10.1111/j.1651-2227.2008.00952.x pmid: 18647279
[22]	Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders[J]. Mol Genet Metab, 2013, 110(1-2): 179-180. doi: 10.1016/j.ymgme.2013.07.008 pmid: 23972786
[23]	Burgard P, Kölker S, Haege G, et al. Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years[J]. J Inherit Metab Dis, 2016, 39(2): 219-229. doi: 10.1007/s10545-015-9901-1 pmid: 26634836
[24]	Wild KT, Ganetzky RD, Yudkoff M, et al. Hyperorni-thinemia, hyperammonemia, and homocitrullinuria syndrome causing severe neonatal hyperammonemia[J]. JIMD Rep, 2019, 44: 103-107.
[25]	顾学范, 韩连书, 余永国. 中国新生儿遗传代谢病筛查现状及展望[J]. 罕见病研究, 2022, 1(1): 13-19.
[26]	Unsal Y, Yurdakok M, Yigit S, et al. Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism[J]. J Pediatr Endocrinol Metab, 2022, 35(11): 1345-1356. doi: 10.1515/jpem-2021-0780
[27]	Häberle J, Chakrapani A, Ah Mew N, et al. Hyperammo-naemia in classic organic acidaemias: a review of the literature and two case histories[J]. Orphanet J Rare Dis, 2018, 13(1): 219. doi: 10.1186/s13023-018-0963-7
[28]	Kang E, Kim YM, Kang M, et al. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening[J]. BMC Pediatr, 2018, 18(1): 103. doi: 10.1186/s12887-018-1069-z pmid: 29519241
[29]	Ribas GS, Lopes FF, Deon M, et al. Hyperammonemia in inherited metabolic diseases[J]. Cell Mol Neurobiol, 2022, 42(8): 2593-2610. doi: 10.1007/s10571-021-01156-6
[30]	Devictor D, Tissieres P, Durand P, et al. Acute liver failure in neonates, infants and children[J]. Expert Rev Gastroenterol Hepatol, 2011, 5(6): 717-729. doi: 10.1586/egh.11.57
[31]	Jain S, Chawla D. Transient hyperammonemia of newborn[J]. Indian J Pediatr, 2010, 37(3): 113.
[32]	Hudak ML, MD Jones, Brusilow SW. Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentation[J]. J Pediatr, 1985, 107(5): 712-719.
[33]	Häberle J. Clinical practice: the management of hyper-ammonemia[J]. Eur J Pediatr, 2011, 170(1): 21-34. doi: 10.1007/s00431-010-1369-2
[34]	北京医学会罕见病分会, 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组, 中国医师协会青春期医学专业委员会临床遗传学组及生化学组, 等. 尿素循环障碍的三级防控专家共识[J]. 中国实用儿科杂志, 2021, 36(10): 725-730.
[35]	Raina R, Bedoyan JK, Lichter-Konecki U, et al. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy[J]. Nat Rev Nephrol, 2020, 16(8): 1-12. doi: 10.1038/s41581-019-0226-4
[36]	Wong KY, Wong SN, Shu YL, et al. Ammonia clearance by peritoneal dialysis and continuous arteriovenous hemodiafiltration[J]. Pediatr Nephrol, 1998, 12(7): 589-591. pmid: 9761361

Early diagnosis and precise intervention of neonatal hyperammonemia

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