在患有状细胞疾病的儿童和青少年中,可巴拉明缺乏
Dunia Hatabah1, Rachel Krieger1, Lou Ann Brown1
1Department of Pediatrics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Nutrients
|February 13, 2025
概括
维生素B12缺乏症在患有状细胞病 (SCD) 的儿童中很常见,影响了超过一半的研究对象. 由于不可靠的测试方法和独特的SCD相关脏问题,诊断变得复杂.
科学领域:
- 儿科血液学 儿科血液学
- 营养科学 营养科学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 科巴胺 (维生素B12) 缺乏症在患有状细胞病 (SCD) 的成年人中比一般人群更为普遍.
- 关于SCD儿童维生素B12缺乏的数据有限,特别是关于诊断和氧化物 (N2O) 等治疗的潜在影响.
- 氧化 (N2O) 在某些地区用于SCD疼痛管理,可以干扰维生素B12代谢.
研究的目的:
- 评估SCD疼痛住院儿童中维生素B12缺乏症的患病率.
- 在这个儿科群体中调查维生素B12缺乏的潜在诊断挑战和生物标志物.
主要方法:
- 对3至21岁患有SCD疼痛的儿童的潜在血液和尿液样本进行了二次分析.
- 用血甲基马龙酸 (MMA) 水平 (> 592 nmol/L) 或尿液MMA/肌素比率 (≥ 2.2 mmol/mol) 来定义维生素B12缺乏症.
- 分析了数据,以根据各种诊断标准确定缺陷的患病率,并评估与临床参数的相关性.
主要成果:
- 在被评估的94名儿童中 (平均年龄为13岁,54%为女性,68%为血红蛋白-SS),有53% (50/94) 显示出维生素B12缺乏症的迹象.
- 27%的患者通过尿液MMA/肌氨酸,39%的患者通过血MMA,13%的患者通过这两种方法诊断出缺乏症.
- 血MMA和尿液MMA/肌氨酸与血红蛋白水平或平均体质体积没有相关性.
结论:
- 维生素B12缺乏是SCD儿童的常见发现.
- 缺乏黄金标准诊断测试和测试方式的变化使得准确的流行率确定变得复杂.
- 需要进一步的研究,以了解急性和稳定状态期间SCD中维生素B12代谢动态.
相关概念视频
01:30Vitamins
546
Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced...
546
01:25Role of Vitamins in Maintaining Bone Health
3.1K
The growth and maintenance of bone are regulated by a combination of nutritional factors, including vitamins, such as vitamin A, B12, C, D, and K.
Vitamin A
Vitamin A is involved in the process of bone remodeling. Retinoic acid, the active metabolite of Vitamin A, has nuclear receptors in osteoblasts and osteoclasts, which are involved in bone remodeling.
Vitamin B12
Vitamin B12 acts as a cofactor during the formation of osteoblast-related proteins, such as osteocalcin. Vitamin B12 plays a role...
Vitamin A
Vitamin A is involved in the process of bone remodeling. Retinoic acid, the active metabolite of Vitamin A, has nuclear receptors in osteoblasts and osteoclasts, which are involved in bone remodeling.
Vitamin B12
Vitamin B12 acts as a cofactor during the formation of osteoblast-related proteins, such as osteocalcin. Vitamin B12 plays a role...
3.1K
01:27Disorders of Erythrocytes
844
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
844
01:49Multiple Allele Traits
33.9K
The Concept of Multiple Allelism
33.9K
01:20Inborn Errors of Metabolism
124
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
124
01:22Bone Marrow Sampling and Transplants
276
Bone marrow transplant is a potential cure for several diseases, including cancer and specific genetic disorders. Notably, this procedure is applicable for patients suffering from aplastic anemia, certain types of leukemia, severe combined immunodeficiency disease (SCID), Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma, thalassemia, sickle-cell disease, and certain cancers.
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
The transplant begins with high doses of chemotherapy and radiation treatment, which aim to destroy...
276