肌病型肉碱棕榈酰转移酶Ⅱ缺乏症1例并文献复习  

Clinical and literature review of a case of myopathic form of carnitine palmitoyltransferaseⅡdeficiency

作　　者：陆光双 夏明农 程云 胡杰 李文博 张帆 杨武 LU Guangshuang;XIA Mingnong;CHENG Yun;HU Jie;LI Wenbo;ZHANG Fan;YANG Wu(Lu′an Hospital of Anhui Medical University,Lu′an 237005,China)

机构地区：[1]安徽医科大学附属六安医院儿科,安徽六安237005

出　　处：《精准医学杂志》2024年第5期448-451,共4页Journal of Precision Medicine

基　　金：安徽医科大学附属六安医院院级基金项目(2021-kykt12)。

摘　　要：目的探讨肌病型肉碱棕榈酰转移酶Ⅱ(CPTⅡ)缺乏症基因型-临床表型特点,以提高临床对该病的认识。方法分析1例肌病型CPTⅡ缺乏症患者临床资料,包括基因检测结果、诊治和随访情况,复习文献并总结CPTⅡ缺乏症临床特点和疾病诊治状况。结果患儿,女,10月,急性肠炎入院,血肌酸激酶、肌红蛋白水平显著升高,其父亲既往有经常运动后乏力及解酱油色小便病史,该患儿及其父亲均检测到CPT2基因杂合致病突变c.989dupTp.(Ile332fs),确诊肌病型CPTⅡ缺乏症;予控制感染、补充大量碳水化合物等治疗,患儿血肌酸激酶、肌红蛋白水平恢复正常,出院随访情况良好。结论肌病型CPTⅡ缺乏症是影响骨骼肌脂质代谢常见疾病,也是遗传性肌红蛋白尿常见病因,但症状非常隐蔽,临床上易被忽视,当遇到患者反复血肌酸激酶升高伴运动不耐受、肌红蛋白尿等或有家族史时,需考虑到该病。Objective To explore the correlations of genotype and phenotype of myopathic form of carnitine palmitoyltransferaseⅡ(CPTⅡ)deficiency and to improve the clinical understanding of the disease.Methods The clinical data of a case of myopathic form of CPTⅡdeficiency were analyzed,including the results of gene detection,diagnosis,treatment,and follow-up.The literature was reviewed to summarize the clinical characteristics,diagnosis,and treatment of CPTⅡdeficiency.Results The patient,a 10-month-old girl,was admitted to the hospital with acute enteritis.The blood creatine kinase and myoglobin were significantly increased in the auxiliary examination.Her father had a history of weakness after regular exercise and myoglobinuria.Both the father and the daughter carried the heterozygous pathogenic mutation c.989dupTp.(Ile332fs)in the CPT2 gene,which confirmed the diagnosis of myopathic form of CPTⅡdeficiency.After treatment with infection control and supplementation of a large amount of carbohydrates,creatine kinase and myoglobin returned to normal levels.Following discharge,follow-up showed that the patient was in good condition.Conclusion Myopathic form of CPTⅡdeficiency is a common disease that affects the lipid metabolism in skeletal muscle and is a common cause of hereditary myoglobinuria.However,its symptoms can be quite subtle and are frequently overlooked in clinical practice.When a patient exhibits repeated increases in creatine kinase as well as exercise intolerance,myoglobinuria,or positive family history,the disease should be taken into consideration.

关 键 词：肉碱O-软脂酰转移酶 代谢缺陷 先天性 肌疾病 突变 肌红蛋白尿 

分 类 号：R726.85[医药卫生—儿科] R722.11[医药卫生—临床医学]