论文部分内容阅读
目的探讨新生儿期发病的甲基丙二酸血症(MMA)的临床特征、早期诊断方法及治疗方案,以提高早期诊断的能力。方法对2008年1月至2014年3月湖南省儿童医院新生儿期起病的10例甲基丙二酸血症患儿临床特点进行回顾性分析。结果男8例,女2例。生后1w内起病6例,1-2w内起病1例,超过2w3例。10例中均有黄疸及肌张力异常(其中肌张力低下6例,增高4例),反应差7例,体重不增或下降6例,呼吸道症状8例。严重酸中毒8例,高血糖3例,低血糖2例,高氨血症8例,酮尿5例,高乳酸血症5例。6例行颅脑MRI检查,5例异常,颅脑彩超5例异常。放弃治疗后72h内死亡或死亡病例4例,好转出院6例,随访3例存活超过1年,其中2例有智力发育落后,1例合并有CMV感染。结论新生儿期起病的MMA其临床表现无特异性,病情进展快,病死率高,预后不良,提示需加强早期识别,早期诊断能力,指导家属优生优育,提高生存率。
Objective To investigate the clinical features, early diagnosis and treatment of methylmalonic acidemia (MMA) in neonatal period in order to improve the ability of early diagnosis. Methods A retrospective analysis was performed on the clinical features of 10 cases of methylmalonic acid in the neonatal period from January 2008 to March 2014 in Hunan Children’s Hospital. Results There were 8 males and 2 females. Within 1w after birth onset in 6 cases, 1-2w onset in 1 case, more than 2w3 cases. Jaundice and dystonia were found in all 10 cases (including 6 cases of hypotonia and 4 cases of increase), 7 cases had poor response, 6 cases had no increase or decrease in body weight, and 8 cases had respiratory symptoms. Serious acidosis in 8 cases, 3 cases of hyperglycemia, hypoglycemia in 2 cases, 8 cases of hypernatremia, ketoacid in 5 cases, 5 cases of hyperlactia. 6 cases of craniocerebral MRI examination, 5 cases of abnormalities, 5 cases of cranial color Doppler ultrasound. Four cases of death or death within 72 hours after giving up the treatment, 6 cases of improvement and discharge were discharged, and 3 cases survived for more than one year after follow-up. Among them, 2 cases had mental retardation and 1 case had CMV infection. Conclusion The onset of MMA in neonatal period is characterized by its nonspecific clinical manifestations, rapid progression, high mortality and poor prognosis. It suggests that early recognition and early diagnosis should be strengthened to guide family members’ prenatal and postnatal care so as to improve their survival rate.