Koca Ebru, Buyukasik Yahya, Cetiner Deniz, Yilmaz Rahmi, Sayinalp Nilgun, Yasavul Unal, Uner Aysegul
Hematology Division, Department of Internal Medicine, Hacettepe University Medical School, Ankara, Turkey.
Leuk Res. 2008 Mar;32(3):495-9. doi: 10.1016/j.leukres.2007.06.023. Epub 2007 Aug 13.
We describe a 19-year-old male patient with a previous diagnosis of familial Mediterranean fever (FMF), nephrotic syndrome and secondary amyloidosis, who presented with anemia and leukopenia. The bone marrow assessments showed dysplastic precursors including vacuolated myeloid and erythroid precursors and increased proportion of immature cells up to 19%. The patient received erythropoietin and G-CSF for myelodysplastic syndrome (MDS). No response was observed. During his evaluations copper deficiency was detected. One month after oral copper replacement, the peripheral blood counts and bone marrow findings became completely normalized. An evaluation to identify the cause of copper deficiency, revealed intestinal amyloidosis. Based on our experience we recommend serum copper determination in the diagnostic workup of MDS in patients with comorbidities.
我们描述了一名19岁男性患者，此前诊断为家族性地中海热（FMF）、肾病综合征和继发性淀粉样变性，该患者出现贫血和白细胞减少。骨髓评估显示发育异常的前体细胞，包括空泡化的髓系和红系前体细胞，不成熟细胞比例增加至19%。该患者因骨髓增生异常综合征（MDS）接受了促红细胞生成素和粒细胞集落刺激因子治疗。未观察到反应。在评估过程中检测到铜缺乏。口服补充铜一个月后，外周血细胞计数和骨髓检查结果完全恢复正常。一项旨在确定铜缺乏原因的评估显示为肠道淀粉样变性。根据我们的经验，我们建议在合并症患者的MDS诊断检查中测定血清铜。
