Cystic Fibrosis

Question 1

What is CF?

Answer 1

autosomal recessive disease leading to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). This can lead to a multisystem disease (most commonly affecting the respiratory and gastrointestinal systems but can affect any part of the body with CFTR) characterised by thickened secretions

Question 2

What criteria must be met to diagnose CF?

Answer 2

One or more of the characteristic phenotypic features -
• Or a history of CF in a sibling
• Or a positive newborn screening test result

And

• An increased sweat chloride concentration (> 60 mmol/l) – SWEAT TEST
• Or identification of two CF mutations – genotyping
• Or demonstration of abnormal nasal epithelial ion transport (nasal potential difference)

Question 3

What are some CF presentations?

Answer 3

1. Meconium ileus
   • In 15-20% of newborn CF infants the bowel isblocked by the sticky secretions. There are signs of intestinal obstruction soon after birth with bilious vomiting, abdominal distension and delay in passing meconium.
2. Intestinal malabsorption
   • Over 90% of CF individuals have intestinalmalabsorption. In most this is evident in infancy. The main cause is a severe deficiency of pancreatic enzymes.
3. Recurrent Chest infections
4. Newborn screening

Question 4

What are some features of CF?

Answer 4

Chronic sinusitis
Nasal polyps
Frequent LRTIs
Bronchiectasis
High sodium and high chloride sweat
Liver disease
Finger clubbing
Pancreatic insufficiency
Steatorrhoea
Osteoporosis
Male infertility
Arthritis
Distal intestinal obstruction syndrome

Question 5

What are some common CF complications and how are they managed?

Answer 5

Respiratory infections - aggressive therapy, physio and Abx. May req prophylactic Abx

Low body weight - extra supplements

Distal intestinal obstruction syndrome - PO gastrografin

CF related diabetes

Question 6

What lifestyle advice is given to CF patients?

Answer 6

No smoking
Avoid other CF patients
Avoid jacuzzis (pseudomonas)
Avoid people with colds/infections
Clean and dry nebs throughly
Annual influenza vaccine
Sodium chloride tablets in hot weather/exercise
Avoid stables or compost (aspergillus)

Question 7

What is the management of CF?

Answer 7

Physio for airway clearance
Exercise
Mucolytic treatment - nebs
Pancreatic enzyme replacement therapy - creon
Nutritional supplements
Vit ADEK
Long erm Abx
Optimise CF diabetes
Long term monitoring