目的：提高对幼年型粒单核细胞白血病（ JMML）的临床诊治认识。方法回顾性分析2例早期误诊为过敏性紫癜的JMML患儿的临床资料及其诊疗过程，并结合文献进行复习。结果2例男性患儿年龄分别为1岁4个月、3岁3个月，因反复皮疹伴关节肿痛就诊，病程早期血常规检查无明显异常，仅在合并感染时白细胞计数增高，单核细胞计数＞1.0×109/L。在多家医院诊断为过敏性紫癜，经抗过敏和对症治疗病情可好转。在发病后4个月～1年逐渐出现肝脾及淋巴结肿大，外周血白细胞计数（25～263）×109/L，单核细胞计数（2.1～14.9）×109/L，外周血幼稚细胞分数0.01～0.03。骨髓增生明显活跃，以粒系增生为主，原始粒细胞＋早幼粒细胞占5.5％～6.5％；红系增生相对减低。染色体46XY正常，融合基因阴性，白细胞碱性磷酸酶减低，胎儿血红蛋白（ HbF）可达40％以上。符合1997年国际JMML协作组制定的JMML诊断标准，诊断为JMML。结论 JMML是一种罕见的发病于儿童期的克隆性造血干细胞疾病，早期临床表现多样化，诊断缺乏特异性的指标，易误诊为过敏性紫癜等疾病；仔细体格检查和随访有利于疾病的早期诊断和治疗。%Objective To improve the knowledge of juvenile myelomonocytic leukemia( JMML). Methods This study reported two children with JMML misdiagnosed as allergic purpura in early stage and reviewed the related literatures. Results The two patients,one age being one year and four months,the other three years and three months,visited doctors because of recurrent skin rash accompanying joint pain and swelling. Their early clinical routine blood test didn′t show something unusual other than a rise of white cell count when being co-infected and absolute monocyte count of terminal blood being higher than 1. 0 × 10 9/L. They were diagnosed as allergic purpura by a few hospitals and could recover after anti - allergic and symptomatic treatments. About four months to a year after the onset,patients had the following symptoms:liver spleen and lymph node swelled gradually;the amount of peripheral leukocytes and absolute monocyte reached( 25 -263 ) × 109/L and (2. 1-14. 9) × 109/L respectively;the counts of myeloblast ranged from 0. 01 -0. 03;the bone marrow hyperplasis was obviously active which was mainly granulocytic series and myeloblast+promyelocyte reached 5. 5% -6. 5%;RBC hyperplasia was relatively inactive;46XY chromosomes was normal, fusion gene was negative, the leucocyte alkaline phosphatase decreased,and HbF reached about 40%. The above symptoms met the diagnostic criteria of JMML set by the international JMML association in 1997. So the two patients were finally diagnosed as JMML. Conclusion JMML is a rare hematopoietic malignancy of early childhood. It is easily misdiagnosed as allergic purpura etc,because of diversified early clinical presentation and lack of differential indexes of diagnosis. Careful physical examination and follow -up may provide clues for the early diagnosis and treatment of the disease.
展开▼
