Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin.

Abstract

Dyskeratosis congenita (DC) is a rare inherited disorder characterized by reticulate skin pigmentation, nail dystrophy, mucosal leucoplakia, and bone marrow failure. Pancytopenia is difficult to manage in patients with this disorder. We describe a 13-month-old-boy who presented with reticulate skin lesions, paleness, and hepatosplenomegaly. Anemia and leukopenia developed by the age of 43 months. The patient was treated with granulocyte-macrophage colony-stimulating factor (GM-CSF) (5 microg/kg/d, subcutaneously) for 19 months and erythropoietin (150 U/kg 3 days in a week, subcutaneously) for 8 months, with excellent neutrophil and hemoglobin response. Recurrent infections were not developed after starting GM-CSF, and packed red blood cell transfusion was not given to the patient after starting erythropoietin. GM-CSF combined with erythropoietin may be used in the treatment of bone marrow failure in patients with DC without an HLA-identical donor.

• Authors: Erol Erduran, Sadan Hacisalihoglu, Yavuz Ozoran
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 25 Issue 4 Pg. 333-5 (Apr 2003) ISSN: 1077-4114 [Print] United States
• PMID: 12679652 (Publication Type: Case Reports, Journal Article)

Chemical References

• Erythropoietin
• Granulocyte-Macrophage Colony-Stimulating Factor
• Ferritins
• Deferoxamine

Topics

• Blood Cell Count
• Bone Marrow (pathology)
• Child, Preschool
• Deferoxamine (therapeutic use)
• Disease Susceptibility
• Dyskeratosis Congenita (complications, pathology)
• Erythropoietin (therapeutic use)
• Ferritins (blood)
• Granulocyte-Macrophage Colony-Stimulating Factor (therapeutic use)
• Humans
• Male
• Pancytopenia (drug therapy, etiology, pathology)
• Respiratory Tract Infections (etiology, prevention & control)