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DOI 10.11406/rinketsu.58.917

Медицинская библиотека · [Rinsho ketsueki] The Japanese journal of clinical hematology · 2017

[Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia].

Ogasawara Toshie, Kawauchi Kiyotaka, Mori Naoki, Sakura Hiroshi, Katoh Fumiyo, Kanno Hitoshi, Ito Etsuro

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Аннотация

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.

Для цитирования: Ogasawara Toshie, Kawauchi Kiyotaka, Mori Naoki, Sakura Hiroshi, Katoh Fumiyo, Kanno Hitoshi, Ito Etsuro. [Successful long-term management with low-dose prednisolone in an adult patient with Diamond-Blackfan anemia].. [Rinsho ketsueki] The Japanese journal of clinical hematology. 2017. DOI: 10.11406/rinketsu.58.917.

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