Aim:To explore the clinical characteristics of reversible respiratory chain deficiency in infants and young children.Methods:A retrospective analysis was conducted on the clinical data of a newborn with recurrent resp...Aim:To explore the clinical characteristics of reversible respiratory chain deficiency in infants and young children.Methods:A retrospective analysis was conducted on the clinical data of a newborn with recurrent respiratory distress and elevated lactate levels,and relevant literature was reviewed.The patient,male,22 days old,had difficulty breathing,no weight gain,and symptoms such as shortness of breath and cyanosis after birth,which lasted for 68 days.There was no history of birth asphyxia rescue;Treatment with antibiotics,respiratory support,diuresis,acid correction,multiple vitamins,and levocarnitine did not improve symptoms;Gradual worsening of breathing difficulties accompanied by feeding difficulties and slow weight gain;Multiple rechecks of blood gas analysis indicate an increase in lactate levels.The laboratory results showed that the child in this case had obvious clinical manifestations of MD.Genetic examination showed MT-TE gene mutation,and the mother was a carrier of MT-TE gene mutation.Conclusion:In the face of recurrent respiratory distress accompanied by elevated lactate levels in newborns,when clinical manifestations of unexplained lactate levels,feeding difficulties,poor aspiration,reduced spontaneous activity,and low muscle tone occur,the possibility of mitochondrial disease should be considered,and genetic testing should be actively improved to clarify the diagnosis.This type of disease is different from other types of mitochondrial diseases.After active and effective treatment,the prognosis is good.The key is early diagnosis,reasonable treatment,timely development of reasonable treatment plans,reduction of complications,and improvement of the final prognosis of the child.展开更多
文摘Aim:To explore the clinical characteristics of reversible respiratory chain deficiency in infants and young children.Methods:A retrospective analysis was conducted on the clinical data of a newborn with recurrent respiratory distress and elevated lactate levels,and relevant literature was reviewed.The patient,male,22 days old,had difficulty breathing,no weight gain,and symptoms such as shortness of breath and cyanosis after birth,which lasted for 68 days.There was no history of birth asphyxia rescue;Treatment with antibiotics,respiratory support,diuresis,acid correction,multiple vitamins,and levocarnitine did not improve symptoms;Gradual worsening of breathing difficulties accompanied by feeding difficulties and slow weight gain;Multiple rechecks of blood gas analysis indicate an increase in lactate levels.The laboratory results showed that the child in this case had obvious clinical manifestations of MD.Genetic examination showed MT-TE gene mutation,and the mother was a carrier of MT-TE gene mutation.Conclusion:In the face of recurrent respiratory distress accompanied by elevated lactate levels in newborns,when clinical manifestations of unexplained lactate levels,feeding difficulties,poor aspiration,reduced spontaneous activity,and low muscle tone occur,the possibility of mitochondrial disease should be considered,and genetic testing should be actively improved to clarify the diagnosis.This type of disease is different from other types of mitochondrial diseases.After active and effective treatment,the prognosis is good.The key is early diagnosis,reasonable treatment,timely development of reasonable treatment plans,reduction of complications,and improvement of the final prognosis of the child.
