Congenital neutropenia: advances in diagnosis and treatment.
OBJECTIVE
A decade after the availability of hematopoietic growth factors, the long-term outcome of severe congenital neutropenia has dramatically changed. The prolonged survival of neutropenic patients receiving hematopoietic growth factors has drawn attention to the heterogeneity of this disease and to the complications of treatment. The dose of granulocyte colony stimulating factor that is required to obtain normal levels of circulating neutrophils and to prevent fever and infections is quite variable among patients, but is higher in children with severe congenital neutropenia than in those with other conditions of neutropenia. Moreover, leukemic transformation during treatment is not observed in all patients, but is more typical of severe congenital neutropenia and Shwachman-Diamond patients.


RESULTS
In recent years, the converging efforts of hematologists, immunologists and geneticists have led to the discovery of the genetic and biochemical basis of severe congenital neutropenia; cyclic neutropenia; warts, hypogammaglobulinemia, immunodeficiency, myelokathexis or WHIM syndrome and other rarer conditions associated to neutropenia.


CONCLUSIONS
Although the diagnosis of congenital neutropenia includes many disorders of distinct origin and variable prognosis, their treatment is still based on granulocyte colony stimulating factor administration. Understanding the pathogenesis of these forms of neutropenia and their evolution will focus future studies on the mechanisms of normal and pathological myelopoiesis and on the development of the most appropriate treatment for each type of neutropenia.
Badolato
Raffaele
R
Department of Pediatrics, Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, 25123 Brescia, Italy. badolato@med.unibs.it
Fontana
Stefania
S
Notarangelo
Lucia D
LD
Savoldi
Gianfranco
G
D041321:Chromosomes, Human, X; D005953:Glycogen Storage Disease Type I / Q000150:complications; D006133:Growth Substances / Q000627:therapeutic use; D006397:Hematinics / Q000627:therapeutic use; D022861:Hermanski-Pudlak Syndrome / Q000150:complications; D006801:Humans; D009135:Muscular Diseases / Q000150:complications; D009503:Neutropenia / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D012790:Shwartzman Phenomenon / Q000150:complications
D006133:Growth Substances; D006397:Hematinics