Goede Jeroen S, Benz Rudolf, Fehr Joerg, Schwarz Klaus, Heimpel Hermann
Institute of Oncology and Haematology, City-Hospital Triemli, Birmensdorferstrasse 497, 8063 Zürich, Switzerland.
Ann Hematol. 2006 Sep;85(9):591-5. doi: 10.1007/s00277-006-0143-z. Epub 2006 Jun 10.
Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. CDA I is caused by mutations in the CDAN I gene, encoding a protein named codanin-1. Complex bone abnormalities, especially syndactyly, have not been systematically described with this disease. We present two cases of morphologically and genetically confirmed CDA I with striking bone abnormalities and response to treatment with alpha-interferon. Our cases clearly document the association of skeletal anomalism with CDA I and indicate that codanin-1 may play a role in the development of the skeleton.
I型先天性红细胞生成异常性贫血（CDA I）是一种罕见的常染色体隐性疾病，其特征为红细胞生成无效、成红细胞形态异常以及铁过载。CDA I由CDAN I基因突变引起，该基因编码一种名为codanin-1的蛋白质。复杂的骨骼异常，尤其是并指畸形，尚未在该疾病中得到系统描述。我们报告了两例经形态学和遗传学确诊的CDA I病例，伴有显著的骨骼异常且对α-干扰素治疗有反应。我们的病例清楚地证明了骨骼异常与CDA I之间的关联，并表明codanin-1可能在骨骼发育中起作用。
