以气促起病的新生儿联合氧化磷酸化障碍10型1例

A case of combined oxidative phosphorylation deficiency type 10 with tachypnea as first manifestation

本例患儿为足月小样儿,生后1周以气促起病,临床表现为反复的乳酸性酸中毒,全外显子组测序发现MTO1基因c.1640C>T(p.A547V)和c.1274delG(p.G425Efs*23)复合杂合变异,诊断为联合氧化磷酸化障碍10型,因合并肺炎克雷伯菌败血症,于日龄41 d死亡。联合氧化磷酸化障碍10型属于线粒体病,为常染色体隐性遗传病,新生儿期起病者预后差,暂无特效治疗。本例患儿MTO1基因的c.1640C>T和c.1274delG复合杂合变异,均为新发变异,扩大了MTO1基因变异谱。

A term infant born small for gestational age presented with tachypnea as the first symptom one week after birth and had recurrent lactic acidosis.Whole-exome sequencing revealed compound heterozygous variants of c.1640C>T(p.A547V)and c.1274delG(p.G425Efs*23)in MTO1 gene,based on which the patient was diagnosed as combined oxidative phosphorylation deficiency type 10.The patient developed Klebsiella pneumoniae sepsis and died at 41 days of age.Combined oxidative phosphorylation deficiency type 10 is a type of mitochondrial disease inherited in an autosomal recessive manner.Patients with the onset of symptoms in the neonatal period are likely to have a poor prognosis and there is no effective treatment at present.The heterozygous variants of c.1640C>T and c.1274delG detected in this case are de novo variants,which expand the spectrum of variants in MTO1 gene.