原发性辅酶Q10缺乏7型一例并文献复习  

Primary coenzyme Q10 deficiency-7:a case report and literature review

作　　者：陈先睿[1] 许锦平 姚拥华[1] Chen Xianrui;Xu Jinping;Yao Yonghua(Department of Pediatrics,the First Affiliated Hospital of Xiamen University,Pediatric Key Laboratory of Xiamen,Institute of Pediatrics,School of Medicine,Xiamen University,Xiamen 361003,China)

机构地区：[1]厦门大学附属第一医院儿科,厦门市儿科重点实验室,厦门大学医学院儿童医学研究所,361003

出　　处：《中华儿科杂志》2020年第11期928-932,共5页Chinese Journal of Pediatrics

摘　　要：目的探讨辅酶Q4(COQ4)基因变异致原发性辅酶Q10缺乏7型(COQ10D7)患儿的临床特点及基因变异情况。方法对厦门大学附属第一医院儿科2020年3月1例COQ4基因变异致COQ10D7患儿的临床资料及基因结果进行分析。以“原发性辅酶Q10缺乏症”“COQ4基因”和“primary coenzyme Q10 deficiency”“COQ4 gene”为关键词分别检索万方数据库、中国知网、PubMed、在线人类孟德尔遗传(OMIM)、ClinVar数据库(建库至2020年4月),总结原发性COQ10D7患儿临床特征和基因变异情况。结果患儿男,5月龄,因间断抽搐3个月就诊,确诊为“癫痫”。患儿喂养困难,生长发育迟缓,四肢肌张力低下,伴有血乳酸升高。全外显子测序显示发现了具有致病意义的COQ4基因纯合变异c.370G>A。文献检索纳入临床资料齐全的中文文献1篇,外文文献9篇,共32例。汇总分析33例(包括本例)病例资料,其中12个错义变异,2个移码变异,剪切变异、无义变异及缺失变异各1个,而c.370G>A仅在中国南方地区患儿中发现。多在新生儿期(22例)起病,新生儿呼吸窘迫或呼吸功能不全20例,癫痫发作21例,肥厚性心肌病20例,血清乳酸升高或乳酸酸中毒26例,28例颅脑影像学可见大脑或小脑发育不良、脑萎缩、基底节病变等多种病变。多数患儿预后不佳,33例患儿中死亡20例,死亡年龄4小时龄~3岁6月龄。结论原发性COQ10D7主要临床表型为新生儿期呼吸窘迫或呼吸功能不全、癫痫、心肌肥厚及乳酸升高,致病原因为COQ4基因变异,c.370G>A可能是中国南方地区患儿热点变异。Objective To explore the clinical characteristics and gene variation of primary coenzyme Q10 deficiency-7(COQ10D7)in children.Methods Clinical data and genetic tests results of a COQ10D7 child caused by coenzyme Q4(COQ4)gene variation at the First Affiliated Hospital of Xiamen University in March 2020 were collected and analyzed.A literature search with"primary coenzyme Q10 deficiency"or"COQ4 gene"as the keyword was conducted at Wanfang database,China national knowledge infrastructure(CNKI),PubMed,online Mendelian inheritance in man(OMIM),ClinVar database(up to April 2020),the clinical characteristics and gene variation of children with primary COQ10D7 were summarized.Results A 5-month-old boy was diagnosed as"epilepsy"because of intermittent epileptic seizures in three months.He had feeding difficulties,growth retardation,hypotonia of limbs and increased lactic acid.His whole exon gene testing suggested a homozygous variation of COQ4 gene(c.370G>A).One article in Chinese and 9 articles in English were found,which made up the complete case data of 33 patients(including our case).There were 12 missense variations,2 frameshift variations,1 splicing variation,1 nonsense variation and 1 deletion variation,among these variations c.370G>A was found only in children in southern China.The age of onset was mostly in the neonatal period(22 cases).Among all patients,20 cases had presented neonatal respiratory distress or respiratory insufficiency,21 cases had seizures,20 cases had hypertrophic cardiomyopathy,and 26 cases had elevated serum lactic acid or lactic acidosis.Brain dysplasia,brain atrophy,basal ganglia and other lesions were observed on brain magnetic resonance imaging in 28 cases.Most of them had a poor prognosis with a mortality rate of 20/33.The age of death ranged from 4 hours to 42 months old.Conclusions The main clinical phenotypes of primary COQ10D7 are neonatal respiratory distress or respiratory insufficiency,epilepsy,myocardial hypertrophy and lactic acid elevation.Primary COQ10D7 is caused by homozygou

关 键 词：癫痫 辅酶Q10缺乏症 基因 COQ4 

分 类 号：R725.9[医药卫生—儿科]