摘要
目的本研究探讨甲基丙二酸血症(methylmalonic acidemia,MMA)患儿的临床特点,以期提高本病早期诊断正确率。方法收集泰安市中心医院儿内科2010-01-01-2019-01-01诊断的43例MMA患儿临床资料进行统计分析,其中新生儿组(出生≥28d)29例,非新生儿组(出生<28d)14例。对两组首发症状、入院初步诊断、实验室检查结果、临床检查结果和预后等进行比较分析。结果43例MMA患儿首发症状均有嗜睡、反应差、喂养困难和惊厥等。新生儿组喂养困难和呕吐发生率高于非新生儿组,χ2=4.449,P=0.035;惊厥(χ2=5.799,P=0.016)和贫血(χ2=4.354,P=0.037)发生率低于非新生儿组。两组患儿入院初步诊断以脑炎、消化系统疾病、低血糖、缺血缺氧性脑病、肺炎和癫痫多见。与非新生儿组比较,新生儿组易被初诊为消化系统疾病,χ2=4.036,P=0.045;与新生儿组相比,非新生儿组易被初诊为癫痫(χ2=4.345,P=0.037)、血液系统疾病(χ2=4.354,P=0.037)和脑瘫(χ2=4.354,P=0.037)。MMA患儿实验室检查有酸中毒、低血糖、高血糖、同型半胱氨酸血症、尿酮、贫血和肝肾功能异常等。非新生儿组肝功能损害(χ2=9.136,P=0.003)、肾功能损害者(χ2=5.799,P=0.016)发生率高于新生儿组。MMA颅脑MRI可见弥漫性脑损伤、脑实质、基底节改变及脑积水。好转出院25例,随访25例,出院后不规范治疗或放弃治疗死亡者6例,目前随访19例,其中14例有不同程度的智力及生长发育落后,均为新生儿期发病者。结论新生儿与非新生儿MMA起病者,首发症状和实验室检查均无特异性且有一定差异,容易影响首诊医师初步诊断。对于临床有可疑迹象的患儿,需尽早完善相关检查,早期诊断,以期改善预后。
OBJECTIVE This study explored the clinical characteristics of children with methylmalonic acidemia(MMA)in order to improve the correct rate of early diagnosis of this disease.METHODS The clinical data of 43 children with MMA diagnosed in the Department of Pediatrics of Tai’an Central Hospital from January 1,2010 to January 1,2019 were collected for statistical analysis,including 29 cases in the neonatal group(birth≥28 d)and the non-neonatal group(birth<28 d)14 cases.The first symptom,initial diagnosis,laboratory examination results,clinical examination results and prognosis of the two groups were compared and analyzed.RESULTS The first symptoms of 43 children with MMA were sleepiness,poor response,feeding difficulties and convulsions.The incidence of feeding difficulties and vomiting in the neonatal group was higher than that in the non-neonatal group,χ2=4.449,P=0.035.The incidence of convulsions(χ2=5.799,P=0.016)and anemia(χ2=4.354,P=0.037)were lower than those in the non-neonatal group.Newborn group.The initial diagnosis of children in the two groups was encephalitis,digestive system diseases,hypoglycemia,hypoxic ischemic encephalopathy,pneumonia and epilepsy.Compared with the non-neonatal group,the neonatal group was easily diagnosed as a digestive system disease,χ2=4.036,P=0.045.Compared with the neonatal group,the non-neonatal group was easily diagnosed with epilepsy(χ2=4.345,P=0.037),blood system diseases(χ2=4.354,P=0.037)and cerebral palsy(χ2=4.354,P=0.037).Laboratory tests in children with MMA have acidosis,hypoglycemia,hyperglycemia,homocysteineemia,urinary ketones,anemia,and abnormal liver and kidney function.The incidence of liver damage(χ2=9.136,P=0.003)and renal damage(χ2=5.799,P=0.016)in the non-neonatal group was higher than that in the neonatal group.MMA brain MRI showed that diffuse brain injury,brain parenchyma,basal ganglia changes and hydrocephalus.25 cases were improved and discharged,25 cases were followed up,and 6 cases died after discharge from the hospital without standard tr
作者
米青
刘静
杨新利
史宝海
MI Qing;LIU Jing;YANG Xin-li;SHI Bao-hai(Department of Children's Intensive Care Unit,Tai'an Central Hospital,Tai'an 271000,P.R.China)
出处
《社区医学杂志》
CAS
2020年第24期1671-1675,共5页
Journal Of Community Medicine
关键词
甲基丙二酸血症
儿童
首发症状
实验室检查
预后
methylmalonic acidemia
children
first symptoms
laboratory tests
prognosis
