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Copyright of Pearl River is the property of Pearl River Editorial Office and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

线粒体神经胃肠脑肌病（MNGIE）是一种超罕见的疾病，是由胸腺嘧啶磷酸化酶的编码基因TYMP突变引起的。该文报道1例MNGIE诱发胰岛素抵抗脂肪萎缩性糖尿病患者的诊疗经过。患者女，19岁。以“发现双下肢麻木、月经不规则4年”为主诉入院，通过临床资料分析和全外显子基因检测，在TYMP基因上检测到2个杂合变异：c.T1364C：p.L455P和c.447dupG：p.H150fs，符合MNGIE的诊断。患者同时存在血糖异常、消瘦、多毛、闭经、胰岛素抵抗、黑棘皮表现、脂肪肝、高甘油三酯血症和低高密度脂蛋白胆固醇血症等。通过文献复习，推测患者为MNGIE诱发胰岛素抵抗脂肪萎缩性糖尿病。该文结合患者诊疗过程探讨MNGIE和脂肪萎缩性糖尿病临床特征、诊治要点，以期提高临床对该疾病的认识。 [ABSTRACT FROM AUTHOR]

Copyright of Chinese Journal of Applied Chemistry is the property of Chinese Journal of Applied Chemistry and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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Copyright of Progress in Modern Biomedicine is the property of Publishing House of Progress in Modern Biomedicine and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)