外胚层发育不良患者的II型先天性促红细胞增生性贫血。与先天性角化不良症的区别。

K W Sykora, J Niedich, J Price, J Bussel
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引用次数: 0

摘要

目的:我们描述了一个病人谁提出了严重贫血和外胚层发育不良。患者和方法:这是一个病例报告,患者在纽约医院进行贫血评估,然后返回澳大利亚进行进一步的测试。结果:病史提示为慢性贫血。骨髓检查显示双核晚期正母细胞符合先天性II型促红细胞增生性贫血(CDA II),而非先天性角化不良。阵发性夜间血红蛋白尿被排除,尽管存在阳性的蔗糖溶血试验。通过检测排除了其他类型的获得性和先天性贫血。结论:这是第一例同时伴有CDA II和外胚层发育不良的患者。
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Type II congenital dyserythropoietic anemia in a patient with ectodermal dysplasia. Distinction from dyskeratosis congenita.

Purpose: We describe a patient who presented with severe anemia and ectodermal dysplasia.

Patients and methods: This is a case report of a patient whose anemia was evaluated at New York Hospital and then returned to Australia where further testing was performed.

Results: The history indicated that this was a chronic anemia. Bone marrow examination showed binucleated late normoblasts consistent with congenital dyserythropoietic anemia type II (CDA II) and not dyskeratosis congenita. Paroxysmal nocturnal hemoglobinuria was excluded despite the presence of a positive sucrose hemolysis test. Other types of acquired and congenital anemias were excluded by testing.

Conclusions: This is the first patient reported with coincident CDA II and ectodermal dysplasia.

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