title: High-dose intravenous corticosteroid treatment for patients with Diamond-Blackfan syndrome resistant or refractory to conventional treatment.
abstract: 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.
mesh_terms: D001827:Body Height / Q000187:drug effects; D002675:Child, Preschool; D004351:Drug Resistance; D004920:Erythropoiesis / Q000187:drug effects; D005260:Female; D006801:Humans; D007223:Infant; D007275:Injections, Intravenous; D008297:Male; D008775:Methylprednisolone / Q000008:administration & dosage* / Q000009:adverse effects; D011241:Prednisone / Q000627:therapeutic use; D012010:Red-Cell Aplasia, Pure / Q000097:blood / Q000151:congenital / Q000188:drug therapy*; D013577:Syndrome
chemical_list: D011241:Prednisone; D008775:Methylprednisolone