Cystic Fibrosis (CF) : Causes, Symptoms, Diagnosis, & Treatment

Cystic Fibrosis (CF) : Definition, Causes, Genetics, Foundation, Symptoms, Diagnosis, Management, & Life Expectancy


  • Cystic Fibrosis is an inherited life-threatening multisystem disorder that damages the lungs and digestive system.
  • Cause of death: Pneumonia
  • Inheritance: Autosomal recessive
  • Gene: Transmembrane conductance regulator (CFTR) gene on chromosome 7 which codes chloride channel in epithelial surfaces.
  • Mutation: ΔF 508 (most common)
  • More commonly seen in ashkenazi jews mediterranean population.

Clinical Features

1. Respiratory involvement

Absence or abnormal chloride channel

Dehydration of secretion

  • Nasal polyp
  • Sinusitis
  • Recurrent pneumonia

  • Most common cause of recurrent pneumonia in cystic fibrosis overall: Pseudomonas (Mucoid > Non mucoid)
  • Most common cause of recurrent pneumonia in cystic fibrosis in children: Staphylococcus aureus > Pseudomonas
  • Fungal cause: Aspergillus fumigatus

2. GIT involvement

– Meconium ileus (doesn’t pass meconium after 48 hour of birth)
– Constipation
– Dehydration of pancreatic secretion because of

  • Malabsorption (due to enzyme deficiency)
  • Pancreatic duct & acinar destruction (due to pancreatitis autocatalytic activation of trypsinogen

– Biliary tract

  • Gall stones
  • Biliary cirrhosis

3. Sweat glands

  • Function: To absorb chloride

Mutation in cystic fibrosis cause

  • Excess salty sweats
  • Dehydration
  • Hypochloremic alkalosis severe cases

4. Genitourinary system

  • Males: Sterility because of congenital absence of vas deferens
  • Females: Reduced fertility because of thick cervical mucous


Screening tests

  • Sweat chloride test

Positive if chloride secretion > 60 meq/l

  • Immunoreactive trypsinogen assay (neonates)


Presence of clinical features of cystic fibrosis


First degree relative with CF


Positive sweat chloride test


Two cystic fibrosis mutations on DNA analysis


Single abnormal nasal potential difference measurement


Two sweat chloride test positive on two separate occasions


1. Chest physiotherapy

2. Pneumonia

Oral / IV antibiotics


Nebulized / inhaled antibiotics

3. Enzyme therapy

  • Orally 1–2 hour before each meal (life long)


  • New therapy: Gene therapy

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