Cystic Fibrosis

Question 1

Genetics of CF

Answer 1

AR disease
1 in 20 Caucasians hetrozygote
1 in 200 carrier frequency

CFTR gene chromosome 7
DeltaF508 = 70%

Question 2

Diagnosis of CF

Answer 2

Gene test positive OR
Symptoms of CF in at least 1 organ system and evidence of CFTR dysfunction

98% multi-organ disease

Non classic = 2%

• normal or intermediate sweat test
• 1 organ system
• usually present in adulthood
• more unusual CFTR mutations

Question 3

CFTR related diseases

Answer 3

Chronic rhinosinusitis
Idiopathic bronchiectasis
Acute and chronic idiopathic pancreatitis
ABPA
Congenital bilateral absence of vas deferens

Question 4

Clinical syndromes

Answer 4

Respiratory = bronchiectasis and pneumonia
Sinusitis
Pancreatic disease --. malnutrition and ADEK loss
Distal ileal obstruction
Biliary disease
Infertility - male = 90%, female = 20%
Arthropathy
OP
VTE
Nephrocalcinosis and lithiasis

Question 5

Respiratory infections

Answer 5

Psuedomonas
- Worse lung functions

Burkholderia Cepacia complex

• Accelerated decline in lung function
• Worse outcomes with transplant

Non-TB mycobacteria

• M. Abscessus = worse outcomes with transplant
• Only treat if clinical symptoms

Question 6

IVACAFTOR

Answer 6

CFTR potentiator
–> prevents airway dehydration and improves cilia motility

G551D mutations –> defective channel opening
4% of CF patients

–> improved FEV1, reduced exacerbations and hospitalisations and weight gain

Minor effects for DF508

Question 7

Other treatments

Answer 7

Azithromycin

Inhaled Dornase alpha
Inhaled hypertonic saline
PEP therapy

Question 8

Allergic Bronchopulmonary aspergillosis

Answer 8

1-2% of asthma and 2-15% of CF patients
Caused by aspergillous infection
Hypersensitivity + Ag-Ab complexes + eosinophils

Results in bronchiectasis, mucous plugging. atectasis, consolidation

Treatment = steroid and itraconazole