High-dose intravenous corticosteroid treatment for patients with Diamond-Blackfan syndrome resistant or refractory to conventional treatment.

Five out of eight patients with congenital pure red cell aplasia (PRCA), who became refractory or did not respond to conventional prednisone treatment (2 mg/kg), responded to high-dose intravenous methylprednisolone administration. The drug was given daily 30 mg/kg for 3 days, 20 mg/kg for 4 days, then subsequently 10, 5, and 2 mg/kg for a week, followed by 1 mg/kg until the hemoglobin level reached 12 g/dl. In the other three patients, although normoblasts appeared in the bone marrow, hemoglobin elevation was not observed. These three patients finally responded fully to a dose of 100 mg/kg intravenously. Therefore, we believe that resistance to corticosteroids could be overcome by increasing the dose in patients with Diamond-Blackfan syndrome. Four of these patients have been off the treatment for 2-13 months. Seven recurrences occurred in three patients 6-9 months following discontinuation of the treatment. However, all again responded to the same regimen.