Cystic fibrosis

Question 1

What causes cystic fibrosis

Answer 1

Autosomal recessive
Mutation in CFTR gene on chromsome 7 - chloride channel in epithelium

Question 2

Pulmonary manifestations of cystic fibrosis

Answer 2

Chronic bronchitis
Bronchiectasis
Recurrent infections often pseudomonas aeruginosa

Question 3

GI complications

Answer 3

Pancreatic insufficiency, malabsorption, liver disease

Question 4

Male complications cystic fribrosis

Answer 4

Male infertility - bilateral congenital absence of vas deferens

Question 5

Diagnostic tests for cystic fibrosis

Answer 5

Newborn creening
Sweat chloride test
Genetic analysis

Question 6

Most common mutation causing CF

Answer 6

f508 deletion

Question 7

Pathophysiology of CF

Answer 7

Impaired ion transport due to dysfunctional or absent CFTR protein -
Chloride and water retention inside cells, sodium ruch environment outside cells -> sodium and water reabsorption -> mucus dehydrated and thickend

Question 8

What is the classic sign of cystic fibrosis in an infant

Answer 8

Meconium ielus thats symptomatuc - intestinal obstruction as a newborn

Question 9

Clinical features in children with CF

Answer 9

Chronic cough
Recurrent wheezing
Chronic respiratory infections
Malabsorption in GI tract
FTT

Question 10

Pancreatic insufficiency featires

Answer 10

Steatorrhea, weight loss, and malabsorption of fat-soluble vitamins d

Question 11

What is DIOS

Answer 11

Distal intestinal obstruction syndrome due to insissated faecal material in CF

Question 12

Endocrine manifestations in CF

Answer 12

CF related diabetes - insulin deficiency and impaired glucose tolerance from pancreatic damage
Growth failure

Question 13

Female features CF

Answer 13

Thick cervical mucus, irregular menstrual cycles and decreased fertility

Question 14

What can be dangerous if excessive sweating in CF

Answer 14

Salt loss syndrome - excess NaCl loss in sweat -> hyponatrmic dehydration and metabolic alkalosis esp in infants

Question 15

What levels are diagnositc of CF from sweat chloride test

Answer 15

> 60 mmol/L
30-59 = further investigation

Question 16

What need to monitor in CF

Answer 16

Sputum culture
Pulmonary function tests
CT chest and CXRs
Blood tests
DEXA scan - malabsorption vut D / calciumn

Question 17

How can CF be diangosed crtieria

Answer 17

Child or young adult with no symptoms but positive test results eg blood spot immunoreactive trypsin test + sweat chlorude and gene test
Child or young adult with clinical features CF confirmed by NaCl sweat test or genetics
Child or young adult with solely clinical features of CF

Question 18

Management of CF

Answer 18

AW clearance techniwues
Chest physiotherapy
Early start antibiotics for chest infections
Nutritional supplements
Regular monitoring

Question 19

AW clearance technqieus

Answer 19

Chest physio - active breathing cycle, autogenic drainage, + espiratory pressure devuced
High frequency chest wall oscillation
Exercise

Question 20

Medications in CF

Answer 20

Mucolytics - dornase afla, hypertonic saline
Bronchodilators eg B2 agonists and anticholinergics
Anti inflammatorues - inhaled corticosteroids and oral ibuprogen
Antibiotics - inhlaed
CFTR modulators - ivacaftor, ,lumacaftor - improve protein function and clinical outcomes

Question 21

Nutrtional management CF

Answer 21

Pancreatic enzyme replacement therapy - PERT
Fat soluble vitamine supplements - A, D, E, K
High energy diet 0 high calorie, high fat diet

Question 22

Options for respiratory failure in CF

Answer 22

Lung transplant

Question 23

ENT and kidney complications of CF

Answer 23

Sinusitis and nasal polyps from chronic inflammation
Nephrolithiasis - dehydration, alkaline urine, hyperoxaluria increase kidney stones

Question 24

What factors influence CF life expectancy

Answer 24

genotype, pancreatic status, pulmonary function, nutritional status, and the presence of complications such as cystic fibrosis-related diabetes (CFRD) and liver disease
Average 40 years life expectancy