KOSTMANN AGRANULOCYTOSIS
 
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    KOSTMANN AGRANULOCYTOSIS

     

    DEFINITION:

    A disorder of neutrophil number characterized by a severe congenital neutropenia resulting in recurrent and severe pyogenic infections.

    EPIDEMIOLOGY:

    • incidence: rare
    • age of onset:
      • first few years of life
    • risk factors:
      • familial - autosomal recessive
        • chrom.#: ?6p21.3
        • gene: ?

    PATHOGENESIS:

    1. Background

  • 1. Neutropenia
    • mild - 1,000-1,500/mm3
    • moderate - 500-1,000/mm3
    • severe - <500/mm3
    • it appears that only patients with severe neutropenia have an increased risk of life-threatening infections
    • most common organisms isolated:
      • S. aureus and gram negative bacteria

    • 2. Genetic Defect

    • genetic defect -> normal development up to promyelocytic or myelocytic stage then marked depletion of mature neutrophils -> absolute neutrophil count chronically <200/mm3

    CLINICAL FEATURES:

    1. Recurrent and Severe Pyogenic Infections

    • involve skin, mouth, and rectum
      • cutaneous cellulitis, furunculosis
      • superficial or deep cutaneous abscesses
      • stomatitis, gingivitis
      • perirectal inflammation
    • otitis media, pneumonia, chronic cough
    • may result in a fatal infection

    INVESTIGATIONS:

    1. CBC

    • severe neutropenia - 200-1,000/mm3 (0-10% PMN's)
    • compensatory monocytosis and eosinophilia
    • anemia of chronic disease
    • normal platelets

    2. Neutrophil Functions

    • chemotaxis - normal
    • superoxide release - normal
    • bacterial killing - normal

    3. Imaging Studies

  • 1. MRI/CT/Bone Scan
    • detection of abscesses

    • MANAGEMENT:

    1. Supportive

    • management of infections
    • G-CSF
      • may restore normal neutrophil count
      • can markedly decrease the number of infections

     

     

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