title: Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report.
abstract: Dyskeratosis congenita (DC) is a rare congenital X-linked disorder. The major clinical manifestations are abnormal skin pigmentation, nail dystrophy, and leukoplakia of mucosal membranes. About 50% of the patients develop bone marrow failure, which is partly responsible for the poor prognosis. Recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) has been administered to some neutropenic patients with DC, but only a moderate stimulation of neutropoiesis has been observed. We report on a patient with DC treated with recombinant human granulocyte-colony-stimulating factor (rhG-CSF). This treatment resulted in a substantial dose-dependent increase in the neutrophil count.
authors.affiliation: Department of Medicine I, University of Vienna, Austria.
authors.forename: L
authors.initials: L
authors.lastname: Oehler
authors.forename: E
authors.initials: E
authors.lastname: Reiter
authors.forename: J
authors.initials: J
authors.lastname: Friedl
authors.forename: E
authors.initials: E
authors.lastname: Kabrna
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
authors.forename: A
authors.initials: A
authors.lastname: Rosenkranz
authors.forename: K
authors.initials: K
authors.lastname: Lechner
authors.forename: K
authors.initials: K
authors.lastname: Geissler
mesh_terms: D000328:Adult; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006410:Hematopoiesis / Q000187:drug effects*; D006801:Humans; D007971:Leukoplakia / Q000150:complications; D008297:Male; D009264:Nails, Malformed; D009503:Neutropenia / Q000188:drug therapy*; D010859:Pigmentation Disorders / Q000188:drug therapy; D013577:Syndrome; D014960:X Chromosome
chemical_list: D016179:Granulocyte Colony-Stimulating Factor