Cystic Fibrosis

Question 1

What type of inheritance is the Cystic fibrosis gene?

Answer 1

Autosomal recessive

Question 2

Where is the cystic fibrosis gene located?

Answer 2

Lies on long arm of chromosome 7

Question 3

What is the gene called?

Answer 3

CFTR

Question 4

What does CFTR stand for?

Answer 4

Cystic fibrosis transmembrane conducted regulator?

Question 5

What is the most common type of mutations in northern europeans?

Answer 5

phe508del(traingle) F508

Question 6

What are the functions of the CTFR genes?

Answer 6

-Active transport channel for chloride

Question 7

What does the movement of chloride do for the body?

Answer 7

-Regulates liquid volume on epithelial surface
(Reduced choride efflux)
(Increased sodium influx)

Question 8

What are the common presentations for antenatal patients?

Answer 8

• CVS (Chorionic villus sampling)

- Echogenic Bowel (brighter in ultrasound)

Question 9

What are some less common presentations for antenatal patients?

Answer 9

-Performed meconium ileus

Question 10

What are the common presentations for infants and young children?

Answer 10

• Recurrent chest infections

- Failure to thrive

Question 11

What are the uncommon presentations for infants and children?

Answer 11

Rectal prolapse 
Pseudo-Bartter`s syndrome
Anaemia
Oedema
Hypoproteinaemia

Question 12

What are the common presentations for older children and adults?

Answer 12

Recurrent chest infections
Nasal polyps and sinusitis
Male infertility

Question 13

What are the uncommon presentations for older children and patients?

Answer 13

Acute pancreatitis
liver disease
Pseudo-Bartter`s (Hypokalaemia metabolic alkalyosis)
Atypical mycobacteria

Question 14

What neonatal screening is available for CF?

Answer 14

• Newborn bloodspot day 5 (Guthrie test)

- Initial screen immunoreactive trypsinogen

Question 15

What is trypsinogen?

Answer 15

an inactive substance secreted by the pancreas, from which the digestive enzyme trypsin is formed in the duodenum.

Question 16

What are the two cardinal features of CF?

Answer 16

• Pancreatic Insufficiency

- Bronchopulmonary infection

Question 17

What are the feature of abnormal stools?

Answer 17

• Pale or Orange
• Very Offensive
• Greasy or oily

Question 18

How does one treat pancreatic insufficiency?

Answer 18

• Enteric coatsed enzyme pellets
• High energy diet
• Fat soluble vitamin and mineral supplements
• H2 antagonist or proton pump inhibitors

Question 19

Describe the effects of recurrent broncho pulmonary infection?

Answer 19

• Pneumonitis
• Bronchiectisis
• Scarring
• Abscesses

Question 20

What are the common organisms that infect during CF?

Answer 20

• Staphylococcus aureus
• Haemophilus influenzae

Pseudomonas aeruginosa later on in life

Question 21

What are some uncommon organisms that infect with CF?

Answer 21

• Burkholderia cepacia
• Stenotrophomonas maltophilia
• Alcaligenes xylosoxidans
• Atypical mycobacteria e.g. M abscessus

Question 22

Describe the effects of CF on the GI tract?

Answer 22

• Dysmotility

- Co-existent disease

Question 23

Describe the features of dysmotility?

Answer 23

• Meconium ileus
• Gastro-oesophageal reflux
• Distal intestinal obstruction
• Constipation/rectal prolapse

Question 24

What are the manifestations of CF?

Answer 24

• Upper airway polyps and sinusitis
• Diabetes
• Bones
• Heat exhaustion
• Bilateral abscence of vas deferens
• Vaginal candidasis; Stress incontinence