[Kostmann disease in children].
Kostmann's disease (KD) is a severe congenital neutropenia, a rare autosomal recessive disorder of neutrophil number. Complete blood count with differential reveals an ANC less than 500/mm3 as seen in classic cases, monocytosis and eosinophilia. Bone marrow aspiration or biopsy reveals an arrest of neutrophil precursor maturation at the promielocyte or myelocyte level. KD results in an increased susceptibility to frequent bacterial infections. In the absence of medical intervention with granulocyte colony-stimulating factor (G-CSF), bone marrow transplantation, the mortality rate is 70% within the first year of life. We present three cases to illustrate this rare entity, the difficulty of diagnosis, but also to underline the importance of correct treatment.
Facultatea de Medicina, Universitatea de Medicină şi Farmacie Gr.T. Popa Iaşi.
Magdalena
M
Salariu
Ingrid
I
Miron
I
I
Tansanu
Doina
D
Georgescu
Maria Magdalena
MM
Florea
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001803:Blood Transfusion; D002648:Child; D000080984:Congenital Bone Marrow Failure Syndromes; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005260:Female; D000069585:Filgrastim; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D008297:Male; D009503:Neutropenia / Q000151:congenital / Q000175:diagnosis / Q000628:therapy; D009504:Neutrophils / Q000166:cytology; D011379:Prognosis; D011788:Quality of Life; D011994:Recombinant Proteins; D016896:Treatment Outcome
D000900:Anti-Bacterial Agents; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D000069585:Filgrastim