Service de pédiatrie générale, centre hospitalier régional d'Orléans, rue de la Madeleine, Orléans 45000.
Constitutional neutropenia include a heterogeneous group of diseases characterized by a decrease in circulating neutrophils. Many genetic diseases, many acquired diseases include a neutropenia that must be ruled out before considering the diagnosis of isolated constitutional neutropenia. Prevention of repeated infections is the main issue in the management of such patients. It includes first prophylactic antibiotherapy by trimetroprim-sulfamethoxazole, and secondary hematological growth factors (G-CSF principally).
Long term G-CSF therapy resulted in a rise in the absolute neutrophil count, reduction in infections, improvement of quality of life. Severe side effects including osteoporosis, vasculitis, myelodysplasia or leukemia have been occasionally reported in a subset of patients. They are being prospectively assess in an international register, and require to consider individually the use of hematological growth factors, in a benefit/risk perspective.