title: 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.affiliation: Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey. erduran@ktu.edu.tr
authors.forename: Erol
authors.initials: E
authors.lastname: Erduran
authors.forename: Sadan
authors.initials: S
authors.lastname: Hacisalihoglu
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Ozoran
mesh_terms: D001772:Blood Cell Count; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D003676:Deferoxamine / Q000627:therapeutic use; D004198:Disease Susceptibility; D019871:Dyskeratosis Congenita / Q000150:complications* / Q000473:pathology; D004921:Erythropoietin / Q000627:therapeutic use*; D005293:Ferritins / Q000097:blood; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D010198:Pancytopenia / Q000188:drug therapy* / Q000209:etiology / Q000473:pathology; D012141:Respiratory Tract Infections / Q000209:etiology / Q000517:prevention & control
chemical_list: D004921:Erythropoietin; D016178:Granulocyte-Macrophage Colony-Stimulating Factor; D005293:Ferritins; D003676:Deferoxamine