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目的总结MPV17相关肝脑型线粒体耗竭综合征(MDS)2例的病例,并结合文献复习对该病临床特征总结。方法 2014年12月、2012年9月分别在解放军302医院青少年肝病诊疗与研究中心就诊,诊断为MPV17相关肝脑型MDS的兄弟2例,查阅数据库,将国外报道的MPV17基因突变导致的MDS 17例及此2例临床资料总结。结果病例1.3月龄因生后即尿黄、眼黄就诊。表现肌张力低下、发育迟滞和生长迟缓;黄疸、转氨酶高、乳酸增高,血多种酯酰肉碱增高;二代DNA测序发现MPV17复合杂合突变:C.152~148缺失GTCCG缺失移码、C.263T>A p.Lys88Met、C.265T>A p.Met89Leu。病例2.2.83岁首诊。临床表现与病例1相似,3.5岁死亡。国外报道MPV17基因突变导致的MDS,最常见临床表现有黄疸、肝功能异常、肌张力低下、肌力减低。结论MPV17相关肝脑型MDS临床特征:婴儿早期肌张力低下、生长迟缓、发育迟滞(尤其是运动)等;肝功能异常、血乳酸、肉碱升高,MPV17致病性突变可确诊。
Objective To summarize the cases of MPV17-associated mitochondrial depletion syndrome (MDS) in 2 cases and to review the clinical features of the disease. Methods Two cases of brothers diagnosed as MPV17-associated liver-brain MDS were investigated in December 2014 and September 2012 in the Juvenile Center for Liver Diseases Diagnosis and Treatment of Chinese People’s Liberation Army 302 Hospital. The data of the MDS 17 gene mutations in MDS 17 Cases and 2 cases of clinical data summary. Results Case 1.3 months after birth due to urinary yellow, eye yellow treatment. The performance of low muscle tone, retardation and growth retardation; jaundice, high transaminases, increased lactate, increased serum multi-esterified carnitine; second-generation DNA sequencing found MPV17 compound heterozygous mutations: C.152 ~ 148 deletion GTCCG deletion frameshift, C.263T> A p.Lys88Met, C.265T> A p.Met89Leu. Case 2.2.83 years first diagnosis. Clinical manifestations and a similar case 1, 3.5-year-old died. Foreign reports of MPV17 gene mutation caused by MDS, the most common clinical manifestations of jaundice, abnormal liver function, hypotonia, muscle strength decreased. Conclusions MPV17-related clinical features of liver-brain MDS: early infantile hypotonia, growth retardation, retardation (especially exercise), etc .; liver dysfunction, blood lactate, carnitine increased, MPV17 pathogenic mutations can be diagnosed.