线粒体DNA耗竭综合征7型的多学科诊疗一例  

A Case of Multidisciplinary Diagnosis and Treatment of Mitochondrial DNA Depletion Syndrome Type 7

作　　者：宋雯洁 樊悦[1] 李旭[2] 刘雅萍 戴毅[4] 刘兴荣[5] 冯逢[6] 陈晓巍[1] SONG Wenjie;FAN Yue;LI Xu;LIU Yaping;DAI Yi;LIU Xingrong;FENG Feng;CHEN Xiaowei(Department of Otorhinolaryngology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Anesthesiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Institute of Clinical Medicine,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Cardiac Surgery,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China;Department of Radiology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院耳鼻喉科,北京100730 [2]中国医学科学院北京协和医院麻醉科,北京100730 [3]中国医学科学院北京协和医院临床医学研究所,北京100730 [4]中国医学科学院北京协和医院神经科,北京100730 [5]中国医学科学院北京协和医院心外科,北京100730 [6]中国医学科学院北京协和医院放射科,北京100730

出　　处：《罕见病研究》2024年第3期329-334,共6页Journal of Rare Diseases

基　　金：中国医学科学院医学与健康科技创新工程(2021-I2M-1-003)。

摘　　要：一例3岁4月龄女性患儿,共济失调伴极重度感音神经性听力下降2年,为改善听力就诊于我院。基因检测提示TWNK基因c.1186C>T(p.P396S)和c.1357C>T (p.R453W)复合杂合变异,经多学科团队共同讨论,考虑诊断为线粒体DNA耗竭综合征7型(肝脑型)可能性大,患者已有神经系统受累,暂无肝功能不全的证据,人工耳蜗植入术疗效不确定,全身麻醉将加快脑病进展、并可能导致多器官功能衰竭,考虑围术期安全性问题,家长暂不考虑听力干预,予辅酶Q10、叶酸、左卡尼汀、复合维生素口服对症支持治疗。This study presents a case of a girl of three year and 4 month old with ataxia and severe sensorineural hearing loss for 2 years.In order to improve hearing,she was hospitalized in the PUMC Hospital.Genetic testing performed found compound heterozygous variants of c.1186C>T(p.P396S)and c.1357C>T(p.R453W)in TWNK gene.After a multidisciplinary discussion of the case,the team suspected mitochondrial DNA depletion syndrome type 7(hepatocerebral type).The patient has shown nervous system impairment involvement but no evidence of liver dysfunction.The efficacy of cochlear implantation is uncertain and general anesthesia if applied will accelerate the progress of encephalopathy and might lead to multiple organ failure.Unsure of the perioperative safety,the parents of the girl did not chose the option of hearing intervention temporarily,but chose oral symptomatic supportive treatment with coenzyme Q10,folate,levocarnitine,and complex vitamins as recommended.

关 键 词：线粒体DNA耗竭综合征7型(肝脑型) TWNK基因 感音神经性听力下降 共济失调 

分 类 号：R246.81[医药卫生—针灸推拿学] R276.1[医药卫生—中医临床基础]