CAJ | 학술논문

目的分析先天性红细胞生成异常性贫血Ⅱ型(CDA-Ⅱ)患者的临床及实验室检验特征,以提高对该病的认识.方法对1例长期误诊的成人CDA-Ⅱ型患者资料进行分析,并进行相关文献复习.结果患者为年轻女性,自幼发病,以贫血、黄疸为突出表现,血液学呈典型骨髓无效造血特征,骨髓双核幼稚红细胞在幼稚红细胞中所占比例为43%,透射电镜下显示特征性双层胞膜结构.确诊为CDA-Ⅱ.结论 CDA-Ⅱ是一种少见的以骨髓无效造血为特征的先天性贫血性疾病,虽具有独特的实验室检验特征,但极易漏诊和误诊.提高对本病的认识,在我国积极开展与该病相关的CDAN2基因和SEC23B基因的检测非常必要.
목적 분석선천성홍세포생성이상성빈혈Ⅱ형(CDA-Ⅱ)환자적림상급실험실검험특정,이제고대해병적인식.방법 대1례장기오진적성인CDA-Ⅱ형환자자료진행분석,병진행상관문헌복습.결과 환자위년경녀성,자유발병,이빈혈、황달위돌출표현,혈액학정전형골수무효조혈특정,골수쌍핵유치홍세포재유치홍세포중소점비례위43%,투사전경하현시특정성쌍층포막결구.학진위CDA-Ⅱ.결론 CDA-Ⅱ시일충소견적이골수무효조혈위특정적선천성빈혈성질병,수구유독특적실험실검험특정,단겁역루진화오진.제고대본병적인식,재아국적겁개전여해병상관적CDAN2기인화SEC23B기인적검측비상필요.
Objective To investigate the clinical and laboratory features of congenital dyserythropoietic anemia type II ( CDA-Ⅱ ) in order to improve the recognition of the disease. Methods A case of CDA-Ⅱ was reported and the related literatures were reviewed. Results The 32-years old female presented with moderate anemia, jaundice and hepatosplenomegaly from her childhood and was misdiagnosed as hereditary spherocytosis for a long time. There were no increased reticulocytes in the peripheral blood and her bone marrow showed erythroid hyperplasia with 43% of binucleated erythroblasts. Electron microscopy examination revealed stretches of double membrane lining the inner surface of the erythroblast cell membrane. Conclusions CDA- Ⅱ is a rare congenital anemia characterized by ineffective erythropoiesis with unique laboratory features , and is relatively easy to be misdiagnosed. It is necessary to improve the awareness of CDA- Ⅱ , and to set-up its responsible gene analysis, i. e. , CDAN2 gene and SEC23B gene detection.