Ogasawara Toshie, Kawauchi Kiyotaka, Mori Naoki, Sakura Hiroshi, Katoh Fumiyo, Kanno Hitoshi, Ito Etsuro
Department of Medicine, Tokyo Women's Medical University Medical Center East.
Department of Pediatrics, Tokyo Women's Medical University Medical Center East.
Rinsho Ketsueki. 2017;58(8):917-921. doi: 10.11406/rinketsu.58.917.
Diamond-Blackfan anemia (DBA) is a rare congenital disease caused by mutations in ribosomal protein genes and is characterized by pure red cell aplasia. While the prognosis is relatively favorable, quality of life (QOL) among DBA patients is negatively impacted by the adverse effects of long-term prednisolone (PSL) therapy and blood transfusions. We describe a 43-year-old man who was diagnosed with DBA (Hb of 2.18 g/dl) at the age of two months. He was initially treated with PSL and blood transfusions, followed by cyclosporine and low-dose (6 mg/day) PSL, which resulted in a sustained hemoglobin level of 9 g/dl without severe adverse events or loss of QOL. High levels of eADA and GSH as well as a RPS19 gene mutation were confirmed. The only curative therapy is hematopoietic stem cell transplantation, which is associated with significant mortality. However, using low-dose PSL to maintain a stable hemoglobin level may improve QOL for patients who receive curative treatment.
先天性纯红细胞再生障碍性贫血（DBA）是一种由核糖体蛋白基因突变引起的罕见先天性疾病，其特征为单纯红细胞再生障碍。虽然预后相对良好，但长期使用泼尼松龙（PSL）治疗和输血的不良反应对DBA患者的生活质量（QOL）产生了负面影响。我们描述了一名43岁男性，他在两个月大时被诊断为DBA（血红蛋白为2.18 g/dl）。他最初接受PSL和输血治疗，随后接受环孢素和低剂量（6毫克/天）PSL治疗，血红蛋白水平持续维持在9 g/dl，且无严重不良事件或生活质量下降。证实存在高水平的eADA和GSH以及RPS19基因突变。唯一的治愈性疗法是造血干细胞移植，但其伴有显著的死亡率。然而，对于接受治愈性治疗的患者，使用低剂量PSL维持稳定的血红蛋白水平可能会改善生活质量。
