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.
维普
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