Cystic Fibrosis: Signs & Symptoms


Cystic fibrosis (CF0 is a progressive disease that involves a number of different organs. Therefore, people with CF can have a variety of symptoms depending on their age and the severity of their disease. The severity of disease is largely determined by the specific CFTR mutations. But severity of disease is also related to the type of infections that are present in the airway, as well as several “modifier” genes, which in some cases appears to alter the expected clinical features [19]. More than 70% of patients are diagnosed by age 2, but in patients with less severe symptoms, the diagnosis may be delayed for decades.

 

Typical Age-Related Signs and Symptoms of Cystic Fibrosis

Newborns and Infants

  • Obstruction of the bowel at birth (meconium ilius)
  • Poor growth and weight gain, despite a good appetite
  • Frequent greasy, bulky stools, or difficulty in bowel movements
  • Very salty-tasting skin
  • Cough and other respiratory symptoms


Children

  • Persistent coughing, at times productive with sputum
  • Frequent respiratory infections
  • Wheezing or shortness of breath
  • Poor growth and difficulty with weight gain
  • Malnutrition and vitamin deficiency


Adolescents and Young Adults

  • "Clubbing" of the fingers is a classic features of Cystic Fibrosis, although not present in many patients.

    "Clubbing" of the fingers is a classic feature of cystic fibrosis, although not present in many patients.

    Recurrent or persistent lung infections with Staphylococcus aureus or  Pseudomonas aeruginosa
  • Chronic sinusitis, sinus infections, and nasal polyps
  • Clubbing of the fingers and toes
  • Male infertility with an absence of sperm
  • Malnutrition and vitamin deficiency

 

Older Adults

  • Progressive decline in lung function
  • Recurrent exacerbations of lung infections
  • CF-related diabetes
  • Infection with non-tuberculous mycobacterium species
  • Osteoporosis or osteopenia
  • Malnutrition and vitamin deficiency
More Symptoms Information
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