15. CYSTIC FIBROSIS. BRONCHIECTASIS.

Question 1

CFTR stands for?

Answer 1

Cystic fibrosis transmembrane conductance regulator gene

Question 2

CFTR regulates the volume of _______ fluid, through ________ secretion and _________ absorption inhibition

Answer 2

epithelial
chloride
sodium

Question 3

Abnormal transportation of electrolytes and water at the apical part of the cells manifests mainly as:

Answer 3

Chronic obstructive pulmonary disease
Insufficient exocrine pancreatic function
Obstructive azoospermia
High concentration of chloride in the sweat

Growth retardation and delayed puberty associated with malnutrition

Question 4

Symptoms in infancy:

Answer 4

Meconium ileus, obstructive jaundice, bleeding due to vitamin k malabsorption, salty skin

Question 5

Childhood symptoms:

Answer 5

Malodorous faeces
Malnutrition
Chronic sinusitis
Nasal polyposis
Dehydration
Electrolyte imbalance
Recurrent respiratory infections (S. aureus, P. aeruginosa)
Pseudo-bartter syndrome
Distal intestinal obstruction syndrome
Rectal prolapse
Acute or chronic pancreatitis

Question 6

Adult symptoms:

Answer 6

Cystic fibrosis- associated diabetes mellitus
Liver disease
Portal hypertension
Osteoperosis
Athritis
Male infertility

Question 7

In the sweat glands CFTR is responsible for chloride movement _______________

In all other exocrine glands CFTR is responsible for chloride _______________

Answer 7

into the cells
secretion into the lumen

Question 8

Types of bronchiectasis:

Answer 8

Cylindrical bronchiectasis
Involve dilated airways alone

Varicose bronchiectasis
Characterized by focal constrictive areas between the dilated airways

Saccular bronchiectasis / CYSTIC
Characterized by progressive dilation of the airways, ending with cysts or grape-like clusters (“honeycomb” - a sign of the most severe form of bronchiectasis).

Question 9

Causes of bronchiectasis:

Answer 9

• Infection - H. influenzae, S. pneumoniae
• Primary ciliary dyskinesia
• Cystic fibrosis
• Rheumatoid arthritis

Question 10

Diagnosis of bronchiectasis:

Answer 10

Radiography - only helps
High-resolution CT and virtual bronchography are the most accurate techniques
+ bronchoscopy

Question 11

CF affect on fertility in males and females:

Answer 11

In males, congenital absence of the vas deferens and azoospermia are nearly universal.
In females, secondary amenorrhea is often present as a result of chronic illness and reduced body weight.