2例儿童红细胞增多症临床诊疗分析及文献复习  

Clinical diagnosis and treatment analysis and literature review of polycythemia in two children

作　　者：陈茹月 陈天平 许喆 李艳 孔维钰 CHEN Ru-yue;CHEN Tian-ping;XU Zhe(Departments of Hematology,Anhui Provincial Children's Hospital,Hefei 230051,Anhui)

机构地区：[1]安徽省儿童医院血液肿瘤科,安徽合肥230051

出　　处：《安徽医专学报》2024年第4期114-116,共3页Journal of Anhui Medical College

基　　金：国家自然科学资金面上项目(编号:81673421)。

摘　　要：目的:探讨儿童红细胞增多症的临床特征、诊疗方法。方法:对2例红细胞增多症儿童病例,检查并分析患儿的红细胞数、血红蛋白以及红细胞压积等指标,并结合基因检测结果对患儿诊疗情况进行综合评估。结果:2例儿童红细胞增多症患儿均表现出异常高的红细胞计数、血红蛋白浓度和血细胞比容;骨髓MICM分型检测均未发现患儿有染色体异常或白血病相关融合基因;基因检测包括MPN相关基因及BCL/ABL基因均呈阴性。患儿1接受对症治疗后情况稳定,患儿2接受治疗性红细胞单采及对症治疗,随后因明显缺氧症状诊断出肺动静脉瘘并予以相应治疗。结论:红细胞增多症的临床表现复杂,实验室检测及相关基因、骨髓活检、影像学检查对于明确诊断至关重要,应依据患儿的症状实施个体化治疗。Objective:To deepen the understanding of the clinical characteristics,diagnosis and treatment process,and related gene analysis of childhood polycythemia,so as to improve the level of diagnosis and treatment.Methods:Two cases of children with polycythemia admitted,and detailed examinations.The red blood cell count,hemoglobin,and hematocrit of the patients studied were analyzed,and the two patients were comprehensively evaluated in combination with the results of genetic testing.Results:Both children with polycythemia showed abnormally high red blood cell counts,hemoglobin concentrations,and hematocrit.Malignant blood diseases were excluded by bone marrow cytology analysis.The main symptoms of child 1 were skin itching and eczema,while child 2 showed skin cyanosis and headache.Bone marrow MICM typing test did not find chromosomal abnormalities or leukemia-related fusion genes in the two children.Genetic tests including MPN-related genes and BCL/ABL genes were negative.Patient 1 was stable after symptomatic treatment,while patient 2 received therapeutic erythrocyte apheresis and symptomatic treatment due to obvious hypoxia symptoms.Pulmonary arteriovenous fistula was subsequently diagnosed and treated accordingly.Conclusion:The clinical manifestations of polycythemia are complex and diverse.Laboratory tests and related genes and bone marrow biopsy are essential for a clear diagnosis.Treatment should be individualized according to the symptoms of the child.

关 键 词：红细胞增多症 肺动静脉瘘 基因检测 影像学检查 

分 类 号：R722[医药卫生—儿科]