Updated: 9/12/2018

Chronic Granulomatous Disease of Childhood (CGD)

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Snapshot
  • A 1-year-old boy presents with a persistent cough for the past 3 days. He has had multiple episodes of pneumonias and upper respiratory infections since being born. He has also had multiple skin infections. Finally, his medical chart reveals that his growth curve is in the 10th percentile for weight and 5th percentile for height, which is drastically different from his birth numbers, which were in the 50th percentile. A dihydrorhodamine test returns abnormal.
Introduction
  • Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of phagocytes
  • Genetics
    • X-linked recessive (mainly)
    • autosomal recessive disease is milder
    • both result in deficiency in NADPH oxidase
  • Epidemiology
    • males > females due to inheritance pattern
  • Pathogenesis
    • recall normal physiology
      • NADPH oxidase is important in respiratory or oxidative burst
      • results in rapid release of reactive oxygen species such as superoxide
    • CGD patients lack the oxidative burst
      • can only use peroxide from microorganisms to make reactive oxygen species
      • catalase-positive species (S. aureus, E. coli, Aspergillus, and Candida) can neutralize own peroxide with catalase
        • CGD patients are susceptible especially to catalase-positive species
        • can ingest bacteria, but can’t kill it
        • persistent survival of bacteria leads to granulomas in body
Presentation
  • Symptoms
    • often appear in first year of life with recurrent pyogenic infections
    • recurrent infection with catalase-positive organisms
      • pneumonias
      • aspergillosis
      • skin abscesses
      • pulmonary abscesses
      • chronic diarrhea
      • ear infections
      • osteomyelitis
    • failure to thrive
  • Physical exam
    • short stature
    • eczematoid dermatitis
    • hepatomegaly
    • lymphadenopathy
Evaluation
  • Flow cytometry reduction of dihydrorhodamine
    • abnormal
    • can detect X-linked carrier status
    • cannot differentiate oxidase-positive from oxidase-negative phagocyte subpopulations in CGD carriers
  • Nitroblue tetrazolium dye reduction test
    • negative finding = incubated leukocytes do not turn the plate blue
  • Cytochrome C reduction assay
    • measures production of reactive oxygen species
  • CBC
    • most show anemia
  • ↑ IgG, IgM, and IGA
Differential Diagnosis
  • IgA deficiency
  • HIV/AIDs
  • Other primary immunodeficiencies
Treatment
  • Interferon-γ
  • Antibacterial and antifungal prophylaxis
  • Only curative therapy
    • hematopoietic stem cell transplant
Prognosis, Prevention, and Complications
  • Prognosis
    • improving with treatment
    • 50% survival rate to age 30-40
  • Prevention
    • good skin hygiene
    • antifungals and antibiotics
  • Complications
    • severe fungal infections are often determinant of survival
 

 

 

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