线粒体联合氧化磷酸化缺陷症1型1例并文献复习  

Mitochondrial combined oxidative phosphorylation deficiency type 1 in children:a case report and literature review

作　　者：邓琳 逯军[1] DENG Lin;LU Jun(Department of Pediatrics,the Affiliated Haikou Hospital of Xiangya Medical College,Central South University,Haikou,Hainan 570208,China)

机构地区：[1]中南大学湘雅医学院附属海口医院儿童医学部,海南海口570208

出　　处：《中国热带医学》2023年第2期200-204,共5页China Tropical Medicine

基　　金：海南省重点研发计划项目(No.ZDYF2021SHFZ241)。

摘　　要：目的总结线粒体联合氧化磷酸化缺陷症1型(combined oxidative phosphorylation deficiency type 1,COXPD1)的表型与基因型特征,提高临床医生对该类线粒体脑肌病的认识。方法回顾分析1例COXPD1患儿的临床特点、体格检查、实验室检查等病例资料,应用临床全外显子测序及高精度线粒体基因组全长PLUS基因检测方法明确诊断,并复习相关文献进行表型与基因型分析。结果患儿,男,1岁5月,临床表现以高乳酸血症、肝功能异常为主,临床全外显子测序显示患儿GFM1基因存在c.688G>A(p.G230S)纯合变异,Sanger测序验证发现这个变异分别遗传自患儿父母(均为杂合状态),符合常染色体隐性遗传方式。高精度线粒体基因组全长PLUS检测也未发现与临床表型相关的致病突变。确诊该患儿为COXPD1。经过“鸡尾酒”疗法及护肝治疗后,患儿病情较前好转。结论COXPD1表型复杂多变,以肝型和脑型为主,GFM1基因突变影响线粒体翻译系统功能,尽早完善基因检测有助于明确诊断。Objective To summarize the phenotypic and genotypic characteristics of mitochondrial combined oxidative phosphorylation deficiency type 1(COXPD1),and to improve the clinicians’awareness of this mitochondrial encephalomyopathy.Methods The clinical characteristics,physical examination,laboratory examination and other data of a child with COXPD1were analyzed retrospectively.The diagnosis was confirmed by clinical whole exon sequencing and high-precision mitochondrial genome full-length PLUS gene detection,and the phenotype and genotype were analyzed by reviewing relevant literature.Results A one-year and five-month-old boy mainly presented with hyperlactacidemia and abnormal liver function.Clinical whole exon sequencing showed that the child had homozygous variation of c.688G>A(p.G230S)in the GFM1gene.Sanger sequencing verified that the variation was respectively inherited from the parents of the child(both were heterozygous)with the autosomal recessive inheritance pattern.The high-precision mitochondrial genome full-length PLUS detection also did not find pathogenic mutations related to clinical phenotypes.The child was diagnosed with COXPD1.After"cocktail"therapy and liver protection therapy,the patient’s condition improved.Conclusions The phenotype of COXPD1 is complicated and variable,mainly liver type and brain type.The mutation of GFM1 gene affects mitochondrial translation system function,and early gene detection is helpful for definite diagnosis.

关 键 词：线粒体联合氧化磷酸化缺陷症1型 GFM1基因 纯合变异 

分 类 号：R596[医药卫生—内科学]