目的：对儿童慢性再生障碍性贫血（CAA）与骨髓异常增生综合征（MDS）的临床特点进行比较分析，探讨两种疾病之间的差异，帮助临床鉴别诊断。方法：回顾性分析2007年9月至2010年9月收治的23例CAA患儿和9例MDS患儿的临床资料，对所有病例的血常规、网织红细胞计数、乳酸脱氢酶、血清铁蛋白等水平及骨髓细胞学检查、骨髓CD34+计数、骨髓染色体检查、骨髓荧光原位杂交（FISH）检查结果进行对比分析。结果：MDS组中性粒细胞、网织红细胞、血清铁蛋白、乳酸脱氢酶水平均高于CAA组；MDS组骨髓原始细胞计数及三系血细胞的病态造血现象与CAA组差异有显著性；MDS组骨髓CD34+细胞计数水平较CAA组高，FISH异常的检出率亦较CAA组高。结论：CAA和MDS患儿实验室检查、骨髓细胞形态学、细胞遗传学检查结果存在显著不同，三者联合检测对鉴别CAA与MDS有重要意义。
Abstract
OBJECTIVE: This study compared the differences in clinical features between chronic aplastic anemia (CAA) and myelodysplastic syndrome (MDS) in children in order to provide a basis for the differential diagnosis of the two diseases. METHODS: A retrospective study of 23 cases of CAA and 9 cases of MDS from September 2007 to September 2010 was performed. The clinical data including routine blood test results, reticulocyte counts, serum lactate dehydrogenase level, serum ferritin level, cytological examination of bone marrow, bone marrow CD34+ cell counts, bone marrow chromosome and FISH test results were compared between the CAA and MDS groups. RESULTS: Neutrophils, reticulocytes, and serum ferritin and lactate dehydrogenase levels increased in the MDS group compared with those in the CAA group. There were significant differences in bone marrow blast cell counts and dyshematopoiesis phenomena of three lines blood cells between the CAA and MDS groups. The bone marrow CD34+ cell counts and the rate of chromosomal abnormalities detected in bone marrow cytogenetic analysis in the MDS group were significantly higher than those in the CAA group. CONCLUSIONS: There are differences in the results of laboratory examinations and morphological and cytogenetic examinations of bone marrow between the children with CAA and MDS. The differences are useful to the differential diagnosis of the two diseases.
关键词
再生障碍性贫血 /
骨髓异常增生综合征 /
儿童
Key words
Aplastic anemia /
Myelodysplastic syndrome /
Child
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参考文献
［1］Brodsky RA. Biology and management of acquired severe aplastic anemia［J］. Curr Opin Oncol, 1998, 10(2): 95-99.
［2］Delacrétaz F, Schmidt PM, Piguet D, Bachmann F, Costa J. Histopathology of myelodysplastic syndromes. The FAB classification (proposals) applied to bone marrow biopsy［J］. Am J Clin Pathol, 1987, 87(2): 180-186.
［3］张之南, 沈悌. 血液病诊断及疗效标准［M］. 第3版. 北京: 科学技术出版社, 2007: 20-23.
［4］Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, et al. A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative disease［J］. Leukemia, 2003, 17(2): 277-282.
［5］Koh Y, Lee HR, Song EY, Kim HK, Kim I, Park S, et al. Hypoplastic myelodysplastic syndrome (h-MDS) is a distinctive clinical entity with poorer prognosis and frequent karyotypic and FISH abnormalities compared to aplastic anemia AA［J］. Leuk Res, 2010, 34(10): 1344-1350.
［6］黄永兰,黄绍良,黄科,蔡耘. 再生障碍性贫血患儿骨髓间充质干细胞体外生物学特性及其与免疫抑制疗效的关系［J］. 中国当代儿科杂志,2008,10(1):9-13.
［7］王西阁,王晓格,栾斌,胡姬婷. 调节性T细胞及Foxp3基因在再生障碍性贫血患儿外周血中的变化及意义［J］. 中国当代儿科杂志,2010,12(4): 241-243.
［8］HeaIley ML, Golde DW. Myelodysplasia［J］. N Engl J Med, 1999, 340(21): 1649-1660.
［9］Tamai Y, Takami H, Nakahata R, Nakui Y, Suzuki Y, Akagi T, et al. Hematological characteristics of hypoplastic MDS patients with chromosomal abnormalitilies, who had been followed for aplastic anemia with normal karyotypes［J］. Rinsho Ketsueki, 1997, 38(12): 1243-1248.
［10］Tichelli A, Gratwohl A, Nissen C, Signer E, Stebler Gysi C, Speck B. Morphology in patients with severe aplastic anemia treated antilymphocyte globulin［J］. Blood, 1992, 80(2): 337-345.
［11］陈纯，路素英.再生障碍性贫血的发病机制及治疗［J］. 实用儿科临床杂志, 2010, 25(15): 1121-1124.
［12］Wimazal F, Sperr WR, Kundi M, Meidlinger P, Fonatsch C, Jordan JH, et al. Prognostic value of lactate dehydrogenase activity in myelodysplastic syndromes［J］. Leuk Res, 2001, 25(4): 287-294.
［13］Matsui WH, Brodsky RA, Smith BD, Borowitz MJ, Jones RJ. Quantitative analysis of bone marrow CD34 cells in aplastic anemia and hypoplastic myelodysplastic syndromes［J］. Leukemia, 2006, 20(3): 458-462.
［14］van Dijk JP, Knops GH, van de Locht LT, Menke AL, Jansen JH, Mensink EJ, et al. Abnormal WTI expression in the CD34-negative compartment in myelodysplastic bone marrow［J］. Br J Haematol, 2002, 118(4): 1027-1033.
［15］Bernasconi P. Molecular pathways in myelodysplastic syndromes and acute myeloid leukemia: relationships and distinctions-a review［J］. Brit J Haematol, 2008, 142（5）: 695-708.
［16］Kim SY, Lee JW, Cho BS. Clinical implications of abnormal cytogenetics at diagnosis of aplastic anemia［J］. Blood (ASH Annual Meeting Abstracts), 2006, 108（11）: 986.
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