Frappaz D, Richard O, Perrot S, Gautheron V, Elian J C, Freycon F
Service de chimiothérapie massive et transplantation médullaire, hôpital Nord, Saint-Priest-en-Jarez, France.
Pediatrie. 1992;47(7-8):535-40.
The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
作者报告了一名患有Blackfan-Diamond综合征的24岁患者，该患者罹患了霍奇金病。该患者在最初对皮质激素敏感、雄激素治疗失败后，于10岁时开始依赖输血。尽管接受了肠外螯合疗法，他仍患上了血色素沉着症。在被诊断为霍奇金淋巴瘤4个月后，他死于感染性并发症。文献回顾显示，Blackfan-Diamond综合征（3例白血病）及类似疾病（地中海贫血和镰状细胞病）中恶性肿瘤的发病率有所增加，但在其他患有铁沉着症的患者（原发性血色素沉着症、透析治疗的终末期肾衰竭）中并非如此。文中讨论了病因学假说。
