Changes in hemopoietic and immunohematologic parameters with various modes of treatment in children with congenital pure red cell aplasia
Uchiyama, H.; Ishidoya, N.; Kaneko, T.; Fujisawa, K.; Kamiya, K.; Hoshi, Y.; Hirotsu, T.; Akatsuka, J.
Nihon Ketsueki Gakkai Zasshi Journal of Japan Haematological Society 52(3): 588-593
1989
ISSN/ISBN: 0001-5806 PMID: 2515705 Document Number: 326492
Clinical course, response to various modes of treatment and changes in in vitro marrow culture assay were studied in two patients with congenital pure red cell aplasia (Diamond-Blackfan syndrome) who were followed up for a long period. Patient 1, whose diagnosis was made at 8 months of age, was refractory to predinisolone and anabolic steroids. Bolus methylprednisolone, cyclophosphamide, ALG and High-dose intravenous immunoglobulin were given but none were effective. Particularly, hemolysis occurred during high-dose intravenous immunglobulin therapy. In colony assay, CFU-E and BFU-E were found to be extremely decreased throughout the course, and colony formation was not corrected by adding prednisoline to the assay system. However, coculture of normal bone marrow cells with the patient's peripheral mononuclear cells resulted in reduction in CFU-E and BFU-E colonies. In was interesting that CFU-E and BFU-E were normalized after high-dose intravenous immunoglobulin therapy. Patient 2, whose diagnosis was made at 3 months of age, responded to prednisolone treatment at the early phase but became dependent on it thereafter. Thus, bolus methylprednisolone and high-dose intravenous immunoglobulin were given, without effect. Unlike patient 1, bolus methylprednisolone therapy induced reticulocytosis once. During high-dose intravenous immunoglobulin therapy, hemolysis was also observed. In colony assay, CFU-E and BFU-E decreased during the course, but were not corrected by adding prednisolone to the assay system. These findings suggest that in vitro colony assay is not always correlated with response to various therapies, and congential pure red cell aplasia seems to be a heterogeneous disorder. The indication for high-dose intravenous immunoglobulin therapy for this disorder is limited because of hemolysis complicating the therapy.