Showing posts with label CYSTIC FIBROSIS. Show all posts
Showing posts with label CYSTIC FIBROSIS. Show all posts

Gene Therapy May Benefit Patients With Cystic Fibrosis

By Dr Deepu

Gene Therapy May Benefit Patients With Cystic Fibrosis

The AP (7/3, Cheng) reported that physicians “who gave children with cystic fibrosis a replacement copy of a defective gene say it appeared to slow the expected decline of some patients’ lungs.” However, they “called the results ‘modest’ and say there must be major improvements before offering the treatment more widely.” The findings (pdf) were published in Lancet Respiratory Medicine.

        Bloomberg News (7/3, Kitamura) reports that although “the therapy yielded a modest benefit in some patients, there was wide variability among the 136 people at least 12 years old who received monthly doses or a placebo for a year.” Investigators found that after one “year of treatment, in the 62 patients who received the gene therapy, lung function was an average of 3.7 percent greater than in” those given a placebo.
        Also covering the story were Reuters (7/3, Kelland), BBC News (7/4, Ghosh), HealthDay (7/3, Dallas), MedPage Today (7/3, Walker), theHuffington Post (UK) (7/3), the Telegraph (UK)(7/4, Knapton), and The Guardian (UK) (7/3)


Cystic fibrosis is a common inheritable disease characterized by exocrine gland dysfunction. It is the most common cause for chronic obstructive lung disease in young adult.
  • Inheritance follows autosomal recessive pattern.
  • Glandular ducts become obstructed by abnormal secretory products.
  • Mucociliary transport is impeded.
Clinical picture
  • Recurrent lower respiratory tract infections. Recurrent infections from colonized Pseudomonas.
  • Sinusitis, nasal polyps, Clubbing ,prolonged expiration use of accessory muscles are common physical findings
  • CXR shows upper lobe bronchiectasis, peribronchial thickening, segmental infiltrates.
  • Obstructive defect in PFT.Widened A-a gradient with hypoxemia is common.
  • Abnormal sweat test.
  • Appropriate therapy for respiratory infections.
  • Supportive therapy with bronchodilators, Oxygen as needed.
  • Lung transplant in advanced cases.

  • Better antibiotics, respiratory toilette and lung transplant programs have considerably extended the life span of patients with CF.