Cystic Fibrosis

Question 1

How is CF GENETICALLY INHERITED?

Answer 1

Autosomal Recessive Manner

Presence of Mutations in BOTH copies of the gene for the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein

Question 2

What are the MAIN PROBLEMS with the CFTR abnormality?

Answer 2

1) Decreased Mucociliary Clearance
2) Increased Bacterial Adherence
3) Decreased Endocytosis of Bacteria

Question 3

What are the CARDINAL FEATURES of CF?

Answer 3

Recurrent Bronchopulmonary Infections

Pancreatic Insufficiency

Question 4

What does CF do to the CILIA?

Answer 4

Collapses them

Question 5

What does ABNORMAL CILIA FUNCTION lead to?

Answer 5

Mucous Plugging
AND
Bacterial Colonisation

LEADING TO:
Excessive Inflammation
Airway Ulceration and Damage

Question 6

What are the COMMON PATHOGENS involved in the EARLY YEARS of CF?

Answer 6

Staphylococcus Aureus

Haemophilus Influenzae

Question 7

Which ORGANISM PREDOMINATES amongst ADULTS with CF?

Answer 7

Pseudomonas Aeruginosa

Question 8

What are some of the possible RESPIRATORY COMPLICATIONS of CF?

Answer 8

Bronchiectasis
Haemoptysis
Pneumonitis
Lung Abscesses
Airflow Obstruction
Respiratory Failure
Pneumothorax

Question 9

How can pancreatic insufficiency be MANAGED in CHILDREN with CF?

Answer 9

1) Breast Feeding
2) Enzyme Replacement Therapy (Creon)
3) High Energy Diet
4) DEKA Vitamin Supplementation
5) Weight Examined and Recorded (Biweekly)

Question 10

How can recurrent bronchopulmonary infection be MANAGED/PREVENTED in CHILDREN with CF?

Answer 10

Segregation/Cohorting
Chest Physiotherapy
Mucolytics
Prophylactic Antibiotics
Annual Flu Vaccination

Question 11

What are some of the NON-RESPIRATORY COMPLICATIONS of CF?

Answer 11

GI Dysmotility
Hepatopathy
Upper Airway Polyps and Sinusitis
Diabetes
Infertility
Osteopenia
Arthropathy

Question 12

How can recurrent bronchopulmonary infection be MANAGED/PREVENTED in ADULTS with CF?

Answer 12

1) Treat Early and Aggressively with Antibiotics (i.e. Azithromycin)
2) Anti-Inflammatories (i.e. Ibuprofen)
3) Mucolytics (i.e. Hypertonic Saline)
4) Inhaled Therapy
5) Chest Physiotherapy
6) Positive Expiratory Pressure (PEP)
7) Good Nutrition

Question 13

How are NEONATES SCREENED for CF?

Answer 13

1) Newborn Bloodspot Day 5 (Guthrie Test)
2) Immuno-Reactive Trypsinogen
3) Sweat Chlorine Test

Question 14

What are the subsequent BENEFITS of SCREENING NEONATES for CF?

Answer 14

Better Nutrition

Improved Lung Function

Reduced Mortality Rates

Question 15

Describe some of the ISSUES surrounding LUNG TRANSPLANTATION in CF patients?

Answer 15

1) Last Resort Treatment
2) Double Lung Transplant
3) Prolongs Survival and Improves QoL; DOES NOT Cure the Disease

Question 16

What CRITERIA must a CF patient fulfil to be ELIGIBLE for a TRANSPLANT?

Answer 16

1) Rapidly Deteriorating Lung Function
2) FEV1 < 30% predicted
3) Life Threatening Exacerbations
4) Estimated Survival < 2 years

Question 17

What ‘END OF LIFE’ considerations must be broached with a patient with CF?

Answer 17

1) Be Honest, Open and Available for Discussion
2) Help the Patient/Family to Plan and Prepare
3) Merits of Active Versus Palliative Care
4) Bereavement Visits for as Long as Required
5) Access to a Psychologist, if Required

Question 18

What is a LESS COMMON PATHOGEN affecting ADULTS with CF?

Answer 18

Burkholderia Cepacia