GFM1基因突变致儿童线粒体病一例并文献复习

Mitochondrial Disease Caused by GFM1 Gene Mutation:A Case Report and Literature Review

线粒体病(mitochondrial disease,MD)是由于线粒体基因或核基因突变引起线粒体代谢酶功能缺陷,致使ATP合成障碍、能量产生不足而导致的一组全身多系统性病变,临床表现多样、复杂且预后差,目前尚无特效治疗。回顾性分析1例因GFM1基因突变导致的儿童MD的临床特征及基因突变位点,女性患儿1岁,主要表现为反复代谢性酸中毒,高乳酸血症,生长发育落后,GFM1基因存在c.688G>A的纯合突变,氨基酸改变为p.Gly230Ser(甘氨酸>丝氨酸),并复习相关文献中病例情况,旨在提高临床医师对MD的认识,并为产前诊断提供一定的指导。

Mitochondrial disease(MD)is a group of multi-systemic lesions caused by the mutations of mitochondrial genes or nuclear genes,which causes the dysfunction of mitochondrial metabolic enzyme,the disorder of ATP synthesis and the deficiency of energy production.The clinical manifestations are diverse and complex,and the prognoses are poor.There is no specific treatment at present.We reported a case of mitochondrial disease caused by GFM1 gene mutation.She was a female child of 1 year,presenting with repeated metabolic acidosis,hyperlactemia,growth and development lag.A homozygous mutation of GFM1 gene,C.688G>A was found.The amino acid was changed to p.Gly230ser(glycine>serine).Combined with literature review,this case of mitochondrial disease was analyzed so as to improve the clinical physicians′understanding,and to provide some guidance for prenatal diagnosis.