儿童的 sideroblastic 贫血:在三个病例的诊断和管理中的挑战
Samia Rekaya1,2, Ilhem Ben Fraj3,4, Rym Hamdi3
1Department of Pediatrics: Immuno-Hematology and Stem Cell Transplantation, Bone Marrow Transplantation Center, Rue Djebel Lakhdhar, 1006, Tunis, Tunisia. samyarekaya@gmail.com.
Annals of hematology
|March 5, 2025
概括
儿童的 sideroblastic 贫血 (SA) 是罕见的和多样化的. 这项研究强调了三个儿科病例,包括获得的骨髓质疏松综合征和先天性形式,强调了诊断工具和基因测试,以有效管理.
科学领域:
- 血液学 血液学 血液学
- 儿科血液学 儿科血液学
- 罕见疾病 罕见疾病
背景情况:
- sideroblastic贫血 (SA) 是一种罕见的血液学疾病,其特点是线粒体铁积累和无效的红色素形成.
- 抗胰岛素被分为获得的和先天的形式,而获得的类型在儿科患者中不常见.
- 先天性SA (CSA) 还分为综合征和非综合征亚型.
研究的目的:
- 描述三例小儿 sideroblastic 贫血病例. 描述三个小儿 sideroblastic 贫血病例.
- 为了说明诊断方法,包括骨髓形态学和遗传检测.
- 讨论这些罕见的儿科血液学疾病的管理和结果.
主要方法:
- 对SA的诊断是基于骨髓吸附涂抹分析 (≥15%的3型 sideroblasts) 和遗传检测.
- 整个外基因组测序被用来识别突变.
- 监测了临床随访和对治疗的反应 (例如,皮里多克素,化疗).
主要成果:
- 一名患者因SF3B1突变而被诊断出患有带环 sideroblasts (MDS-RS) 的骨髓质综合征,通过"等待和观察"方法进行管理.
- 两名患者被诊断出患有先天性SA (CSA),一个患有SCL25A38突变,另一个患有疑似氨基氨酸合成酶2缺乏症.
- 这两位CSA患者都经历了铁过载,需要进行化疗法.
结论:
- 珍珠斑是对未解释的儿科贫血的有价值的诊断辅助.
- 基因检测对于表征先天性 sideroblastic 贫血是必不可少的.
- 带有环状 sideroblast 的骨髓瘤在儿童中异常罕见,长期预后不明.
相关概念视频
Disorders of Erythrocytes
833
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...
833
Erythropoiesis
4.0K
Red blood cells (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia,...
4.0K
Bone Marrow Sampling and Transplants
270
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...
270
Factors Affecting Erythropoiesis
3.0K
The cardiovascular system regulates the number of erythrocytes in the bloodstream to ensure optimal oxygen transport. It also prevents over-proliferation of these cells, which helps to maintain blood viscosity and flow rate.
Several factors influence the erythrocyte production rate, with tissue oxygen level being among the most critical. Intense exercise or high altitudes can cause tissue hypoxia, which triggers the kidneys to release more erythropoietin (EPO) into the bloodstream.
EPO then...
Several factors influence the erythrocyte production rate, with tissue oxygen level being among the most critical. Intense exercise or high altitudes can cause tissue hypoxia, which triggers the kidneys to release more erythropoietin (EPO) into the bloodstream.
EPO then...
3.0K
Overview of Hematopoiesis
3.7K
Hematopoiesis, or blood cell production, is a vital biological process that begins early in embryonic development and continues throughout life. This process generates the various types of cells found in blood, including red blood cells, white blood cells, and platelets from hematopoietic stem cells (HSCs).
Developmental Phases of Hematopoiesis
Initially, HSCs are formed in the embryonic yolk sac, a critical site for early blood cell production. These stem cells subsequently migrate to other...
Developmental Phases of Hematopoiesis
Initially, HSCs are formed in the embryonic yolk sac, a critical site for early blood cell production. These stem cells subsequently migrate to other...
3.7K
Inborn Errors of Metabolism
122
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...
122


