title: [Severe congenital neutropenia: trends in diagnosis and therapy].
abstract: Severe congenital neutropenia (CN; Kostmann syndrome) is a hematologic disorder characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of development. This arrest results in severe neutropenia with absolute neutrophil counts (ANC) less than 0.2 x 10(9)/l associated with severe systemic bacterial infections from early infancy. Data on over 300 patients with CN collected by the Severe Chronic Neutropenia International Registry (SCNIR) since 1994 indicate that > 90% of these patients respond to recombinant human granulocyte-colony stimulating factor (rHuG-CSF) treatment with an ANC > 1.0 x 10(9)/l. In these patients rHuG-CSF is required daily as subcutaneous injection with individual doses ranging between 0.27 and 120 mcg/kg/day to maintain ANC above 1.0 x 10(9)/l. Adverse events documented in this group of patients include splenomegaly, thrombocytopenia, osteoporosis and malignant transformation into MDS/leukemia. If and how rHuG-CSF treatment impacts on these adverse events remains unclear since there are no historical controls for comparison. For those patients who are refractory to rHuG-CSF treatment and continue to have severe and often life-threatening bacterial infections, hematopoietic stem cell transplantation (HSCT) is still the only currently available treatment.
authors.affiliation: Kinderklinik, Medizinische Hochschule Hannover.
authors.forename: C
authors.initials: C
authors.lastname: Zeidler
authors.forename: B
authors.initials: B
authors.lastname: Schwinzer
authors.forename: K
authors.initials: K
authors.lastname: Welte
mesh_terms: D000276:Adjuvants, Immunologic / Q000008:administration & dosage / Q000627:therapeutic use*; D003937:Diagnosis, Differential; D004305:Dose-Response Relationship, Drug; D005858:Germany; D016179:Granulocyte Colony-Stimulating Factor / Q000008:administration & dosage / Q000235:genetics / Q000627:therapeutic use*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D009503:Neutropenia / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D011379:Prognosis; D011994:Recombinant Proteins; D012042:Registries; D016019:Survival Analysis; D013577:Syndrome
chemical_list: D000276:Adjuvants, Immunologic; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor