| 摘要: |
| 目的：总结肉碱棕榈酰转移酶2（CPT2）缺乏症的诊治经验。方法：回顾性分析1例CPT2缺乏症患儿的临床资料和基因检测结果，并复习相关文献。结果：患儿，1岁7个月，第二次发病，两次临床表现主要为横纹肌溶解综合征，基因检测CPT2基因提示突变c.338C>T（p.S113L）和c.1711c>A（p.P571T），c.338C>T（p.S113L）来自母亲，c.1711c>A（p.P571T）来自父亲，最终确诊为CPT2缺乏症。结论：反复发作的较小年龄横纹肌溶解综合征患儿需警惕遗传代谢病如CPT2缺乏症，通过基因检测做到早发现、早预防。 |
| 关键词: 横纹肌溶解综合征 肉碱棕榈酰转移酶2缺乏症 CPT2基因 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2020.10.005 |
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| 基金项目: |
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| Carnitine Palmitoyltransferase 2 Deficiency: a Case Report and Literature Review |
| Zhou Yanfen, Jin Runming, Bai Yan |
| (Union Hospital Tongji Medical College Huazhong University of Science and Technology, Hubei Wuhan 430022, China) |
| Abstract: |
| Objective: To summarize the diagnosis and treatment experience of carnitine palmitoyltransferase 2 (CPT2) deficiency. Methods: The clinical data and CPT2 gene test results in one child with CPT2 deficiency were retrospectively analyzed, and the related literature were review. Results: The twice of rhabdomyolysis syndrome were observed in a one year and seven month male child. Gene sequencing showed that there were compound heterozygous mutations in CPT2 gene c.338C>T(p.S113L) and c.1711C>A(p.P571T), c.338C>T(p.S113L) inherited from the mother and c.1711C>A(p.P571T) inherited from the father. And the final diagnosis of CPT2 deficiency was confirmed. Conclusion: Children with recurrent rhabdomyolysis syndrome in younger ages need to be alert to genetic metabolic diseases such as CPT2 deficiency, and gene analysis can be used to early detection and early prevention. |
| Key words: rhabdomyolysis syndrome carnitine palmitoyltransferase 2 deficiency CPT2 gene |
