Cystic Fibrosis

Question 1

CF = ?

Answer 1

Cystic fibrosis

Question 2

Cystic fibrosis - Frequency and most affected organs:

Answer 2

• Most common genetically determined monogenic disease (1:1700). Failure to pass meconium (meconium ileus) is often the first clinical sign of cystic fibrosis.
• Later, the lungs, digestive system, and sweat glands are commonly affected.

Question 3

What happens in CF?

Answer 3

• Bronchial accumulation of hyperviscous mucus and impaired ciliary clearance predispose patients to chronic respiratory infection, susceptibility to pulmonary colonization with multiresistant bacteria, and
  long-term complications such as emphysema.
• Impaired secretion of pancreatic and biliary juices leads to digestive problems and chronic organ
  damage.

Question 4

What is the golden standard for CF?

Answer 4

The sweat test (pilocarpine iontophoresis) is considered the gold standard for detecting elevated levels of chloride in sweat; which is a characteristic sign of cystic fibrosis.

Question 5

What is the prognosis of CF?

Answer 5

• The life expectancy of patients with cystic fibrosis remains low.
• Complications of chronic lung disease are the leading cause of death in patients with CF.

Question 6

What si the pathology of CF?

Answer 6

• Autosomal recessive genetic disorder (CFTR gene)
• CFTR ==> impaired transmembrane ion transport ==> abnormal Cl and Na transport across epithelium ==> thick/ viscous secretions (especially resp & GI)

Question 7

CF - Clinical features:

Answer 7

GI tract:

• Meconium ileus
• prolonged neonatal jaundice
• foul-smelling fatty stools large
• malabsorption syndrome
• rectal prolapse - rare
• biliary cirrhosis
• cholelithiasis in children
• recurrent pancreatitis in children

Question 8

CF - Diagnostics:

Answer 8

• Suspicion - i.e. clinical symptoms
• positive newborn screening for CF
• Diagnosis must be confirmed by either:
  
  • sweat test (Cl> 60 mmol / l)
  • detection of mutations in both alleles of the CFTR
  • gene (a negative test result does not exclude CF) !
• high value transepithelial potential difference

Question 9

What is the treatment for CF?

Answer 9

Diet:

• high-energy (130-150% of energy)
• do not restrict fat intake
• Vitamins A, D, E, F
• Pancreatic enzymes
• during meals, in two portions (the early and mid-meal)