| 摘要: |
| ［摘要］ 目的 分析儿童线粒体病的临床表型及基因变异特点，以期及早识别儿童线粒体病。方法 回顾性收集2020年5月至2025年2月河南医药大学第一附属医院新生儿科、开封市儿童医院新生儿科及东莞市第八人民医院（东莞市儿童医院）儿科收治的18例线粒体病患儿的临床资料，包括性别、年龄、临床表型、头颅磁共振成像（MRI）检查结果、基因检测结果、治疗及随访资料。结果 共纳入18例患儿，男12例，女6例，其中新生儿期发病者9例。原发性线粒体病14例，其中核基因变异所致者11例；继发性线粒体病4例。18例线粒体病患儿临床表型多样，最常见者为高乳酸血症（7例）。头颅MRI结果提示病变多累及白质及皮质下核团。所有患儿均予对症治疗，4例予线粒体病鸡尾酒疗法。随访发现8例于3岁前死亡，6例发育迟缓；2例一般情况尚可，1例双眼睑下垂，1例单侧下肢无力。结论 儿童线粒体病表型无特异性，高乳酸血症为常见表型，积极基因检测可明确诊断，对症和支持治疗可改善预后。 |
| 关键词: 儿童 线粒体病 基因变异 临床表型 高乳酸血症 |
| DOI：10.3969/j.issn.1674-3806.2026.05.16 |
| 分类号:R 725.9 |
| 基金项目:新乡医学院第一附属医院博士科研启动基金项目（编号：xyyfy2019BS-005） |
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| Analysis on clinical phenotypes and genetic variations of 18 cases of mitochondrial diseases in children |
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CUI Qingyang1, TANG Jun2, LI Jianwei3
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1.Department of Neonatology, the First Affiliated Hospital of Henan Medical University, Xinxiang 453100, China; 2.Department of Neonatology, Kaifeng Children′s Hospital, Kaifeng 475099, China; 3.Department of Pediatrics, Dongguan Eighth People′s Hospital(Dongguan Children′s Hospital), Dongguan 523325, China
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| Abstract: |
| ［Abstract］ Objective To analyze the clinical phenotypes and genetic variation characteristics of mitochondrial diseases in children, with the aim of identifying mitochondrial diseases in children as early as possible. Methods The clinical data of 18 pediatric patients with mitochondrial diseases who were admitted to the Department of Neonatology of the First Affiliated Hospital of Henan Medical University, the Department of Neonatology of Kaifeng Children′s Hospital and the Department of Pediatrics of Dongguan Eighth People′s Hospital(Dongguan Children′s Hospital) from May 2020 to February 2025 were retrospectively collected. These clinical data included gender, age, clinical phenotypes, results of head magnetic resonance imaging(MRI) scans, genetic testing results, treatment and follow-up data. Results A total of 18 pediatric patients were included, including 12 males and 6 females, among whom 9 pediatric patients developed the disease in the neonatal period. In the 18 pediatric patients, there were 14 cases of primary mitochondrial disease. Among the 14 pediatric patients with primary mitochondrial disease, there were 11 cases of the disease caused by nuclear gene variations. There were 4 cases of secondary mitochondrial disease. The clinical phenotypes of the 18 pediatric patients with mitochondrial diseases were diverse, with hyperlactatemia being the most common(7 cases). The results of head MRI scans suggested that the lesions were mostly involved in the cerebral white matter and subcortical nuclei. All the pediatric patients were given symptomatic treatments, and 4 pediatric patients received cocktail therapy for mitochondrial diseases. During the follow-up, 8 pediatric patients died before the age of 3; 6 pediatric patients had developmental delay; 2 pediatric patients were generally in good condition; 1 pediatric patient had ptosis of both eyelids and 1 pediatric patients had weakness of one lower limb. Conclusion The phenotypes of mitochondrial diseases in children are not specific, among which hyperlactatemia is a common phenotype. Active genetic testing can confirm the diagnosis, and symptomatic and supportive treatments can improve the prognosis. |
| Key words: Children Mitochondrial diseases Genetic variations Clinical phenotypes Hyperlactatemia |
