CF Management

Question 1

Where should children with cystic fibrosis (CF) be managed?

Answer 1

Children with cystic fibrosis should be managed at a specialist tertiary centre, such as the Royal Brompton Hospital for West London.

Question 2

What are CFTR modulators and what benefits do they provide?

Answer 2

CFTR modulators improve FEV1, symptom-related quality of life, and reduce acute exacerbations.

Question 3

What is the current status of CFTR modulators like orkambi, symkevi, and kaftrio under the NHS?

Answer 3

A recent draft NICE appraisal suggests that orkambi, symkevi, and kaftrio are effective but too expensive for the NHS, meaning no additional patients will be started on these until funding issues are resolved. Current patients will not be affected.

Question 4

Who should undergo CFTR genotyping and why?

Answer 4

All children with CF should undergo CFTR genotyping to determine if they carry mutations approved for CFTR modulator therapy.

Question 5

What is the first-line treatment for children over 2 years old with the F508 del mutation?

Answer 5

Triple therapy with elexacaftor/tezacaftor/ivacaftor (Kaftrio) is the first line for children over 2 years old with the F508 del mutation.

Question 6

What is the first-line treatment for children under 2 years old with the F508 del mutation?

Answer 6

Lumacaftor-ivacaftor is used if homozygous, and ivacaftor if heterozygous for children under 2 years old with the F508 del mutation.

Question 7

What are some common pulmonary complications in cystic fibrosis?

Answer 7

Common pulmonary complications include pneumonia, nasal polyps, and sinusitis.

Question 8

What are general prophylactic management techniques for pulmonary complications in CF?

Answer 8

General prophylactic management includes airway clearance techniques, mucoactive agents, and recommended use of specific agents unless aged over 12 and taking Kaftrio with normal or mildly reduced lung function.

Question 9

What is the recommended first-line mucoactive agent for airway clearance?

Answer 9

rhDNase is the recommended first-line mucoactive agent for airway clearance.

Question 10

What antibiotics can be used for chronic/persistent pseudomonas aeruginosa infection?

Answer 10

Colistin and Tobramycin are used for chronic/persistent pseudomonas aeruginosa infection.

Question 11

What are some common gastrointestinal complications in cystic fibrosis?

Answer 11

Common gastrointestinal complications include underweight/malnutrition, intussusception, meconium ileus, and fat-soluble vitamin deficiencies.

Question 12

What is the dietary recommendation for children with cystic fibrosis?

Answer 12

A high-calorie diet is recommended for children with cystic fibrosis.

Question 13

What therapy is used for pancreatic enzyme insufficiency in CF?

Answer 13

Pancreatic enzyme replacement therapy (e.g., Creon) is used for pancreatic enzyme insufficiency.

Question 14

What should be done if malabsorption persists despite optimal pancreatic enzyme replacement therapy?

Answer 14

H2 receptor antagonists or PPIs should be used if malabsorption persists despite optimal pancreatic enzyme replacement therapy.

Question 15

What is the first-line treatment for distal intestinal obstruction syndrome in CF?

Answer 15

Gastrografin (orally or via an enteral tube) is the first-line treatment for distal intestinal obstruction syndrome.

Question 16

What should be done if a child with CF has abnormal liver function tests (LFTs)?

Answer 16

If abnormal LFTs are present, ursodeoxycholic acid is first-line (stop once LFTs recover), and refer to a specialist if chronic and deteriorating.

Question 17

What is a common cause of male infertility in cystic fibrosis?

Answer 17

Obstructive azoospermia is a common cause of male infertility in cystic fibrosis.

Question 18

What additional complications are associated with cystic fibrosis?

Answer 18

Additional complications include cystic-fibrosis-related diabetes, reduced female fertility, and reduced bone mineral density.

Question 19

What regular monitoring is recommended for bone mineral density in children with CF?

Answer 19

Regular DEXA scans every 5 years are recommended for monitoring bone mineral density.

Question 20

What support organization can parents of children with CF seek assistance from?

Answer 20

Parents can seek assistance from the Cystic Fibrosis Trust.

Question 21

What is the importance of genetic counselling for families affected by cystic fibrosis?

Answer 21

Genetic counselling is important for families affected by cystic fibrosis to understand inheritance patterns and implications for future children.

Question 22

Summarise CF Management

Answer 22