ACTA-I基因复合杂合突变引起β-酮硫解酶缺乏症临床分析

doi:10.3969/j.issn.2095-9400.2019.08.012

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摘要目的：探讨β-酮硫解酶缺乏症（BKTD）的临床特点，以期早期诊断指导临床实践。方法：回顾性分析温州医科大学附属第二医院育英儿童医院收治的1例经基因测序确诊的BKTD病例，收集其临床症状、辅助检查结果和诊治方案。文献复习BKTD的诊治策略。结果：患儿，男，4岁，因酮症酸中毒2次入院。第1次发作年龄为1岁10个月，发作时血气分析均提示重度代谢性酸中毒，血氨、血乳酸、血脂、尿酸均正常。第1次发作时尿酮体++++，尿气相质谱检测显示除酮体升高外，2-甲基-3-羟基异丁酸升高。第2次发作伴低血糖，血糖2.6 mmol/L，血β-羟丁酸明显升高，血游离脂肪酸正常高限，尿酮体++。血串联质谱示3-羟基丁酸肉碱轻度增高，尿气相质谱示3-羟基丁酸增高，基因测序结果示ACTA-I c.370A＞C、c.473A＞G复合杂合突变，确诊BKTD。结论：婴幼儿在禁食或呼吸道感染或胃肠炎后发生无法解释的严重酮症酸中毒时需考虑BKTD的可能，血串联质谱、尿气相质谱分析有时无典型提示，需要ACTA-I基因型的检测做确诊。

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	高玉凤
	单小鸥

关键词 ： β-酮硫解酶缺陷症, ACTA-I基因, 酮病, 儿童

Abstract：Objective: To discuss the clinical manifestation of β-ketothiolase deficiency for early diagnosis so as to guide clinical practice. Methods: A case of β-ketothiolase deficiency diagnosed by gene sequencing in the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University was reviewed. The data of clinical manifestation, laboratory examination and treatment were collected and summarized. Literature review on the treatment of β-ketothiolase deficiency was done. Results: A 4-year-old boy was admitted to our hospital with a second severe ketoacidosis attack. The first attack occurred at the age of 1 year and 10 months. The blood gas analysis indicated severe metabolic acidosis with normal blood ammonia, lactic acid, lipid profiles and uric acid. The urinary ketone was determined to be (++++), the level of 2 methyl 3 hydroxyisobutyric acid was also increased. In the second attack, the patient presented hypoglycemia with decreased blood glucose level at 2.6 mmol/L, while blood olhydroxybutyric acid was significantly increased, and blood free fatty acid was at normal high value. Urine ketone was determined to be (++). Blood tandem mass spectrometry showed a slight increase of 3-hydroxybutyrate carnitine, and urine gas mass spectrometry showed an increase of 3-hydroxybutyric acid. The result of gene sequencing revealed a compound, heterozygous mutation in ACAT-I (c.370A>C, c. 473A>G) of this patient, thusβ-ketothiolase deficiency was ultimately confirmed. Conclusion: It is necessary to consider the possibility of β-ketothiolase deficiency in infants with severe inexplicable ketoacidosis that happens after fasting, respiratory tract infection or gastroenteritis. When there are no specific abnormalities in blood and urine tandem mass spectrometry, ACTA-I gene detection is needed for further confirmation.

Key words： β-ketothionase deficiency ACTA-I gene ketosis child

通讯作者: 单小鸥，教授，硕士生导师，Email：sssxooo@sina.com。

作者简介: 高玉凤（1983-），女，黑龙江齐齐哈尔人，主治医师，在职硕士生。

链接本文:

https://xb.wmu.edu.cn/CN/10.3969/j.issn.2095-9400.2019.08.012 或 https://xb.wmu.edu.cn/CN/Y2019/V49/I8/606

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