摘要
目的:探讨维生素B_(12)缺乏导致的继发性甲基丙二酸血症(S-MMA)临床表现、生化特点、治疗及预后。方法:回顾性分析2016年6月至2022年6月就诊于河南省儿童医院的11例确诊为维生素B_(12)缺乏导致继发性S-MMA(S-MMA组)患儿的临床表现、实验室检查、治疗效果、母亲孕期情况及生化特点。依据年龄、性别按照1∶3匹配同期确诊为cblC型MMA(C-MMA组),维生素B_(12)缺乏非MMA组为维生素B_(12)缺乏组10例,应用SPSS 20.0软件比较三组患儿临床资料。结果:三组患儿临床表现主要为贫血、呕吐、发育落后,S-MMA组及C-MMA组患儿头颅磁共振主要表现为髓鞘化落后。S-MMA组患儿治疗前后血清维生素B_(12)水平上升,红细胞平均体积(MCV)、同型半胱氨酸、丙酰肉碱(C3)、丙酰肉碱/乙酰肉碱(C3/C2)、尿甲基丙二酸水平下降,差异有统计学意义(P<0.05)。S-MMA患儿预后良好,极个别(9%)因诊断治疗较晚遗留轻度智力低下和运动落后。S-MMA组与C-MMA组治疗前血清维生素B_(12)水平、MCV、总同型半胱氨酸、C3、C3/C2水平以及尿甲基丙二酸水平比较差异均有统计学意义(P<0.05)。结论:孕期维生素B_(12)缺乏可导致婴儿S-MMA,特殊生化指标有助于早期识别S-MMA。
Objective:To explore the clinical manifestations,biochemical characteristics,treatment and prognosis of secondary methylmalonic acidemia(S-MMA)induced by vitamin B_(12)deficiency.Methods:Clinical manifestations,laboratory examinations,therapeutic effects,maternal pregnancy and biochemical characteristics of 11 children diagnosed with secondary S-MMA induced by vitamin B_(12)deficiency(S-MMA group)admitted into Henan Children’s Hospital from Jun.2016 to Jun.2022 were reviewed.Matching by age and gender at a 1∶3 ratio,contemporaneous cases diagnosed with cblC-type MMA(C-MMA group)and 10 cases of vitamin B_(12)deficiency without MMA(non-MMA group)were enrolled.SPSS 20.0 was used to compare the clinical data of three groups.Results:The main clinical manifestations in three groups of children were anemia,vomiting and developmental delay.Magnetic resonance imaging(MRI)of children in both S-MMA and C-MMA groups showed delayed myelination.In the S-MMA group,the serum vitamin B_(12)levels increased after treatment compared with before treatment,while mean corpuscular volume(MCV),homocysteine,acrylic carnitine(C3),C3/acetylcarnitine(C3/C2)ratio,and urinary methylmalonic acid levels decreased,with statistically significant differences(P<0.05).The prognosis for S-MMA children was generally good,with very few(9%)showing mild intellectual impairment and motor delay due to delayed diagnosis and treatment.A comparison between S-MMA group and C-MMA group regarding serum vitamin B_(12)levels,MCV,total homocysteine,C3,C3/C2 levels,and urinary methylmalonic acid levels before treatment showed statistically significant differences(P<0.05).Conclusion:Vitamin B_(12)deficiency during pregnancy can cause S-MMA in infants,and special biochemical indicators can facilitate the early identification of S-MMA.
作者
王小红
毋盛楠
杜萌萌
卫海燕
苏畅
陈永兴
Wang Xiaohong;Wu Shengnan;Du Mengmeng;Wei Haiyan;Su Chang;Cheng Yongxing(Children’s Hospital Affiliated to Zhengzhou University,Henan Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou 450000,China;Beijing Children’s Hospital,Capital Medical University,Beijing 100045,China)
出处
《儿科药学杂志》
2024年第1期32-37,共6页
Journal of Pediatric Pharmacy
基金
河南省医学科技攻关计划联合共建项目,编号LHGJ20210622。
