cystic fibrosis

Question 1

mode of inheritance cystic fibrosis

Answer 1

autosomal recessive

Question 2

MCC of bronchiectasia and chronic suppurative lung disease in caucasian children

Answer 2

cystic fibrosis

Question 3

when is the screening for cystic fibrosis done

Answer 3

Newborn screening program - measurement of immunoreactive trypsinogen from a heel prick blood sample taken on day 3 or 4 of life

If trypsinogen above 99th percentil, then CF gene mutations are analysed
Results available: 6-8 weeks old
-2 gene mutations, referred to specialist center for confirmaiton of dx with sweat chloride test
- One gene mutation (may have CF or may be carrier) –> sweat chloride test

Question 4

Prognosis of CF

Answer 4

Median survival is 44yo - ie: half of people are expected to live beyond 44yo

Question 5

Treatment modalities in Cystic fibrosis

Answer 5

effective airway clearance, using physical techniques and drug treatment (eg mucolytic agents)
anti-inflammatory treatment
drug treatment to correct cystic fibrosis transmembrane conductance regulator (CFTR) protein function in patients with particular mutations of the CF gene; see CFTR modulator therapy for CF
early aggressive antibiotic therapy
strict infection-control measures
managing nonrespiratory aspects (eg nutrition, gastrointestinal aspects, cystic fibrosis–related diabetes, fertility, bone health, kidney disease, mental health).

Question 6

Mng cystic fibrosis

Answer 6

Airway clearance- physical: forced expiration
- meds: inhlaed bronchodilators and mucolytics (dornase alfa, hypertonic saline, mannitol)

Anti- inflammatory: azithromyocin

CFTR modulator therapy: ivacaftor, lumacaftor+ivacaftor, and tezacaftor+ivacaftor

ABx (guided by specialist)
Infection control - hand hygiene, avoiding sick people or prolonged contact, acoid sharing personal itesm, avoid high risk environments, maintaining current vaccinations

Nutrition: special diet, fat soluble vitamin supplementaiton
Diabets: monitor, give insulin first line and high calorie diet
Sexual and reproductive health
Bone health
Kidney disease
Hearing
Mental Health

Question 7

The most common organisms found in airways of patients with CF

Answer 7

Infants and young children: Staphylococcus aureus, Haemophilus influenzae,

Adolesence and adulthood:
Pseudomonas aeruginosa and Aspergillus species