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1. 郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院,郑州,450000
2. 首都医科大学附属北京儿童医院,北京,100045
纸质出版日期:2024,
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王小红, 毋盛楠, 杜萌萌, 等. 维生素B12 缺乏致婴儿继发性甲基丙二酸血症临床诊治体会[J]. 儿科药学杂志, 2024,30(1):32-37.
Wang Xiaohong, Wu Shengnan, Du Mengmeng, et al. Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants[J]. 2024,30(1):32-37.
王小红, 毋盛楠, 杜萌萌, 等. 维生素B12 缺乏致婴儿继发性甲基丙二酸血症临床诊治体会[J]. 儿科药学杂志, 2024,30(1):32-37. DOI: 10.13407/j.cnki.jpp.1672-108X.2024.01.009.
Wang Xiaohong, Wu Shengnan, Du Mengmeng, et al. Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants[J]. 2024,30(1):32-37. DOI: 10.13407/j.cnki.jpp.1672-108X.2024.01.009.
目的:探讨维生素B12 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B12 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B12 缺乏非MMA 组为维生素B12 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B12 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B12 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B12 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 B12 deficiency. Methods: Clinical manifestations
laboratory examinations
therapeutic effects
maternal pregnancy and biochemical characteristics of 11 children diagnosed with secondary S-MMA induced by vitamin B12 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 B12 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 B12 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 B12 levels
MCV
total homocysteine
C3
C3/ C2 levels
and urinary methylmalonic acid levels before treatment showed statistically significant differences (P<0. 05). Conclusion: Vitamin B12 deficiency during pregnancy can cause S-MMA in infants
and special biochemical indicators can facilitate the early identification of S-MMA.
继发性甲基丙二酸血症钴胺素维生素B12缺乏同型半胱氨酸丙酰肉碱
secondary methylmalonic acidemiacobalaminvitamin B12deficiencyhomocysteinepropionylcarnitine
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