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[一名男孩因上呼吸道感染口服尼美舒利后出现瑞氏综合征及猝死症状]

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

作者信息

Feng Li-Fang, Chen Xiao-Hong, Li Dong-Xiao, Li Xi-Yuan, Song Jin-Qing, Jin Ying, Yang Yan-Ling

机构信息

Department of Endocrinology and Metabolism, Tongji Medical College, Wuhan Children's Hospital, Huazhong University of Science and Technology, Wuhan 430015, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):944-949. doi: 10.7499/j.issn.1008-8830.2018.11.013.

DOI:10.7499/j.issn.1008-8830.2018.11.013
PMID:30477628
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7389020/
Abstract

A boy aged 6 years and 3 months developed upper respiratory tract infection and pyrexia 2 months ago and was given oral administration of nimesulide by his parents according to directions. Half an hour later, the boy experienced convulsions and cardiopulmonary arrest, and emergency examination found hypoketotic hypoglycemia, metabolic acidosis, significant increases in serum aminotransferases and creatine kinase, and renal damage. Recovery of consciousness and vital signs was achieved after cardiopulmonary resuscitation, but severe mental and movement regression was observed. The boy had a significant reduction in free carnitine in blood and significant increases in medium- and long-chain fatty acyl carnitine, urinary glutaric acid, 3-hydroxy glutaric acid, isovalerylglycine, and ethylmalonic acid, suggesting the possibility of multiple acyl-CoA dehydrogenase deficiency. After the treatment with vitamin B2, L-carnitine, and bezafibrate, the boy gradually improved, and reexamination after 3 months showed normal biochemical parameters. The boy had compound heterozygous mutations in the ETFDH gene, i.e., a known mutation, c.341G>A (p.R114H), from his mother and a novel mutation, c.1484C>G (p.P495R), from his father. Finally, he was diagnosed with multiple acyl-CoA dehydrogenase deficiency. Reye syndrome and sudden death symptoms were caused by nimesulide-induced acute metabolic crisis. It is concluded that inherited metabolic diseases may be main causes of Reye syndrome and sudden death, and biochemical and genetic analyses are the key to identifying underlying diseases.

摘要

一名6岁3个月大的男孩2个月前出现上呼吸道感染和发热,其父母按说明书给他口服了尼美舒利。半小时后,男孩出现惊厥和心肺骤停,急诊检查发现低酮性低血糖、代谢性酸中毒、血清转氨酶和肌酸激酶显著升高以及肾损伤。心肺复苏后恢复了意识和生命体征,但观察到严重的智力和运动功能倒退。男孩血液中游离肉碱显著减少,中链和长链脂肪酰肉碱、尿戊二酸、3-羟基戊二酸、异戊酰甘氨酸和乙基丙二酸显著增加,提示可能存在多种酰基辅酶A脱氢酶缺乏症。经维生素B2、L-肉碱和苯扎贝特治疗后,男孩逐渐好转,3个月后复查生化指标正常。男孩的ETFDH基因存在复合杂合突变,即来自母亲的已知突变c.341G>A(p.R114H)和来自父亲的新突变c.1484C>G(p.P495R)。最终,他被诊断为多种酰基辅酶A脱氢酶缺乏症。雷氏综合征和猝死症状是由尼美舒利诱发的急性代谢危机引起的。结论是遗传性代谢疾病可能是雷氏综合征和猝死的主要原因,生化和基因分析是识别潜在疾病的关键。

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[Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].[迟发型II型戊二酸血症患儿的临床特征及ETFDH基因突变:附2例报告]
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):975-978. doi: 10.7499/j.issn.1008-8830.2017.09.008.
2
Risk of acute and serious liver injury associated to nimesulide and other NSAIDs: data from drug-induced liver injury case-control study in Italy.与尼美舒利及其他非甾体抗炎药相关的急性和严重肝损伤风险:来自意大利药物性肝损伤病例对照研究的数据。
Br J Clin Pharmacol. 2016 Jul;82(1):238-48. doi: 10.1111/bcp.12938. Epub 2016 Apr 27.
3
Elevation of pivaloylcarnitine by sivelestat sodium in two children.西维来司他钠使两名儿童的新戊酰肉碱水平升高。
Mol Genet Metab. 2015 Nov;116(3):192-4. doi: 10.1016/j.ymgme.2015.09.009. Epub 2015 Sep 26.
4
Glutaric aciduria type 2 presenting with acute respiratory failure in an adult.成人戊二酸血症2型伴急性呼吸衰竭
Respir Med Case Rep. 2015 May 11;15:92-4. doi: 10.1016/j.rmcr.2015.02.009. eCollection 2015.
5
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.迟发性多种酰基辅酶A脱氢酶缺乏症的临床和遗传异质性
Orphanet J Rare Dis. 2014 Jul 22;9:117. doi: 10.1186/s13023-014-0117-5.
6
[C5-carnitine false positive results in newborn screening: what is the cause?].[新生儿筛查中C5-肉碱假阳性结果:原因是什么?]
Med Clin (Barc). 2015 Feb 20;144(4):181-2. doi: 10.1016/j.medcli.2014.03.011. Epub 2014 Jun 2.
7
Profile of idiosyncratic drug induced liver injury in Latin America: an analysis of published reports.拉丁美洲特异质性药物性肝损伤概况:已发表报告分析
Ann Hepatol. 2014 Mar-Apr;13(2):231-9.
8
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.13例核黄素反应性多种酰基辅酶A脱氢酶缺乏症及中国大陆患者文献综述
J Hum Genet. 2014 May;59(5):256-61. doi: 10.1038/jhg.2014.10. Epub 2014 Feb 13.
9
[Multiple acyl-CoA dehydrogenase deficiency in a neonate].
Zhongguo Dang Dai Er Ke Za Zhi. 2013 Dec;15(12):1098-9.
10
Nimesulide controversy: a comparison of EU and Indian scenario.
Int J Risk Saf Med. 2013;25(4):239-46. doi: 10.3233/JRS-130602.