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

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

Definition

  • 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

Investigations

Screening tests

  • Sweat chloride test

Positive if chloride secretion > 60 meq/l

  • Immunoreactive trypsinogen assay (neonates)

Diagnostic

Presence of clinical features of cystic fibrosis

OR

First degree relative with CF

OR

Positive sweat chloride test

+

Two cystic fibrosis mutations on DNA analysis

OR

Single abnormal nasal potential difference measurement

OR

Two sweat chloride test positive on two separate occasions

Treatment

1. Chest physiotherapy

2. Pneumonia

Oral / IV antibiotics

+

Nebulized / inhaled antibiotics

3. Enzyme therapy

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

Note: 

  • New therapy: Gene therapy

Disclaimer: DoctorAlerts is an educational platform. It does not provide medical advice, diagnosis, or treatment. We neither promote nor sell any type of prescription drug or supplement.

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