Wednesday, December 23, 2015

Chronic Granulomatous Disease


  • Chronic granulomatous disease (CGD) is a genetically heterogeneous condition characterized by recurrent, life-threatening bacterial and fungal infections, granuloma formation and inflammation.
  • It is caused by defects in an enzyme, NADPH oxidase, which constitutes the phagocyte oxidase (phox) leading to functional defects in neutrophils and macrophages which are unable to kill off some types of fungi and bacterias
  • The frequent sites of infection are lung, skin, lymph nodes, and liver. 
  • Patients with CGD typically experience recurrent infections caused by bacterial and fungal pathogens. Infections are generally caused by catalase-positive micro organism.
Skin or bone infections involving the bacteria Serratia marcescens
Bacterial infection due to Staphylococcus aureus,  Burkholderia cepacia complex and Nocardia.
Fungal infections, including Aspergillus species.

Goal of management :
  1. Antimicrobial prophylaxis
  2. Early diagnosis of infection
  3. Aggressive management of infectious complications

Treatment
  •  Aggressive antibiotic therapy, intravenously if necessary, and preferably with a specific rather than a broad-spectrum antibiotic
  • Transfusion of plasma 
  • Antibiotic prophylaxis with a combination of trimethoprim and sulfamethoxazole 5 mg/kg/day, based upon the TMP component, administered orally in two divided daily doses. Alternative antibacterial options include beta-lactamase resistant penicillins, cephalosporins, and fluoroquinolones. 
  • Antifungal prophylaxis with itraconazole, 200 mg orally once daily for those over age 13 years or 50 kg and 100 mg daily for those younger or weighing less. 
  • Injections of interferon-gamma(IFN gamma) 3 times weekly, sc 50 mcg/m2 ; for children less than 0.5 m2, sc 1.5 mcg/kg 
Lifelong antifungal plus antibacterial prophylaxis with or without immunomodulatory therapy is recommended

References
  1. DermNet NZ
  2. Up-To-Date


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