| 摘要: |
| 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。 |
| 关键词: 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 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2024.01.009 |
|
| 基金项目:河南省医学科技攻关计划联合共建项目,编号LHGJ20210622。 |
|
| Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by VitaminB12 Deficiency in Infants |
| Wang Xiaohong1, Wu Shengnan1, Du Mengmeng1, Wei Haiyan1, Su Chang2, Cheng Yongxing1 |
| ((1. Children’ s
Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou 450000, China;
2. Beijing Children’s Hospital, Capital Medical University, Beijing 100045, China)) |
| Abstract: |
| 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. |
| Key words: secondary methylmalonic acidemia cobalamin vitamin B12 deficiency homocysteine propionylcarnitine |
