中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2009年
6期
377-380
,共4页
王慧君%张莉%周康%井丽萍%杨栋林%李洪强%刘庆国%茹永新%储榆林%张凤奎
王慧君%張莉%週康%井麗萍%楊棟林%李洪彊%劉慶國%茹永新%儲榆林%張鳳奎
왕혜군%장리%주강%정려평%양동림%리홍강%류경국%여영신%저유림%장봉규
贫血,先天性%红细胞生成异常%无效造血
貧血,先天性%紅細胞生成異常%無效造血
빈혈,선천성%홍세포생성이상%무효조혈
Anemia,congenital%Dyserythropoiesis%Erythropiesis,ineffective
目的 分析先天性红细胞生成异常性贫血Ⅰ型(CDA-Ⅰ)的临床及实验室特征,以提高对该病的认识.方法 对5例CDA-Ⅰ患者的临床表现、血液学检查结果及药物治疗反应结合文献进行同顾性分析.结果 5例患者中男1例,女4例,中位年龄31(17～39)岁.均幼年发病,长期贫血,1例发育畸形,3例伴有黄疸,4例脾肿大.骨髓有核细胞增生明显活跃,红系比例增高,巨幼样变,幼红细胞间可见核间桥;粒系、巨核系细胞形态无特殊改变.幼红细胞胞核呈瑞士奶酪样特征性超微结构改变.多数患者血清铁蛋白不同程度增高.骨髓造血细胞染色体检查均正常.1例患者曾于外院诊断为遗传性球形红细胞增多症,行切脾治疗无效.结论 CDA-Ⅰ少见,临床以自幼发病的长期慢性贫血,常伴黄疸、脾脏肿大、躯体发育畸形和继发铁过载为特征,血液学表现为大细胞贫血、骨髓红系无效造血和典型幼红细胞形态和超微结构改变.
目的 分析先天性紅細胞生成異常性貧血Ⅰ型(CDA-Ⅰ)的臨床及實驗室特徵,以提高對該病的認識.方法 對5例CDA-Ⅰ患者的臨床錶現、血液學檢查結果及藥物治療反應結閤文獻進行同顧性分析.結果 5例患者中男1例,女4例,中位年齡31(17～39)歲.均幼年髮病,長期貧血,1例髮育畸形,3例伴有黃疸,4例脾腫大.骨髓有覈細胞增生明顯活躍,紅繫比例增高,巨幼樣變,幼紅細胞間可見覈間橋;粒繫、巨覈繫細胞形態無特殊改變.幼紅細胞胞覈呈瑞士奶酪樣特徵性超微結構改變.多數患者血清鐵蛋白不同程度增高.骨髓造血細胞染色體檢查均正常.1例患者曾于外院診斷為遺傳性毬形紅細胞增多癥,行切脾治療無效.結論 CDA-Ⅰ少見,臨床以自幼髮病的長期慢性貧血,常伴黃疸、脾髒腫大、軀體髮育畸形和繼髮鐵過載為特徵,血液學錶現為大細胞貧血、骨髓紅繫無效造血和典型幼紅細胞形態和超微結構改變.
목적 분석선천성홍세포생성이상성빈혈Ⅰ형(CDA-Ⅰ)적림상급실험실특정,이제고대해병적인식.방법 대5례CDA-Ⅰ환자적림상표현、혈액학검사결과급약물치료반응결합문헌진행동고성분석.결과 5례환자중남1례,녀4례,중위년령31(17～39)세.균유년발병,장기빈혈,1례발육기형,3례반유황달,4례비종대.골수유핵세포증생명현활약,홍계비례증고,거유양변,유홍세포간가견핵간교;립계、거핵계세포형태무특수개변.유홍세포포핵정서사내락양특정성초미결구개변.다수환자혈청철단백불동정도증고.골수조혈세포염색체검사균정상.1례환자증우외원진단위유전성구형홍세포증다증,행절비치료무효.결론 CDA-Ⅰ소견,림상이자유발병적장기만성빈혈,상반황달、비장종대、구체발육기형화계발철과재위특정,혈액학표현위대세포빈혈、골수홍계무효조혈화전형유홍세포형태화초미결구개변.
Objective To analyze the clinical and laboratory features of patients with congenital dys-erythropoietic anemia type Ⅰ (CDA-Ⅰ), and improve the clinical diagnostic accuracy. Methods The clin-ical and hematological features of 5 patients diagnosed as CDA-Ⅰ in our hospital between July 2002 and July 2007 were analyzed retrospectively, and the related literatures was reviewed. Results Five CDA-Ⅰ pa-tients, 1 male and 4 females, all had a long history of varied degree of chronic anemia. One patient had con-genital malformations, 3 jaundice and 4 hepatosplenomegaly. Bone marrow specimens invariably showed hy-percellularity due to erythroid hyperplasia with megaloblastoid changes, irregularly shaped nuclear, and chro-matin bridges in 0.2% to 0.6% of all erythroblasts. All the 5 patients' bone marrow erythroblasts showed spongy heterochromatin appearances(swiss-cheese) with electron microscopy examination. There was no mor-phologic abnormality in the granulocytes and megakaryocytes. Serum ferritin levels were increased in 3/4 pa-tients. One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level. Conclusions CDA-Ⅰ is a rare congenital anemia characterized by ineffective erythropoiesis, jaundice, hepatosplenomegaly and iron overload, and may be misdiagnosed. Keeping these manifestations in mind should avoid misdiagnosis.
