Cystic fibrosis

Question 1

Genetics

Answer 1

Recessive genetic mutation

Over 1800 CFRT mutations known

Question 2

CFRT

Answer 2

Cystic fibrosis transmembrane conductance regulator

Mutations lead to think exocrine secretions which obstruct lungs + ducts

Question 3

Diagnosis

Answer 3

Carrier testing
Blood tests
Antenatal test

Sweat test

• chloride quanitity
• CF >60mmol/L

Question 4

Symptoms

Answer 4

Vary in severity + occurrence with genetic mutation

Clubbed fingers
Salty tasting skin
GI problems - 85%, diarrhoea, steatorrhoea, poor weight gain
Persistent cough, chest infections, thick mucus secretions

Question 5

Treatment

Answer 5

Medical - antibiotics, steroids, bronchodilators

Physiotherapy

• daily, 10-60min, 1-4x/d
• aids removal of thick chest secretions to reduce chest infections

Question 6

Pancreatic enzymes

Answer 6

Variety - creon, pancrease
Strengths - 10,000/25,000/40,000
Dosage dependant upon level of pancreatic insufficiency
Dosing - fat-based, weight-based
Varies with fat content of meal
Contain lipase/amylase/protease

Question 7

Other issues

Answer 7

Osteoporosis
Diabetes
Liver disease
Fertility

Question 8

CF infants

Answer 8

May need high energy milk if not breast-feeding

Don’t mix capsule contents into bottle

Question 9

Enteral feeding

Answer 9

Feed overnight

Consider - when to take enzymes, displacement of tube due to coughing, social implications

Question 10

Supplements

Answer 10

Use enzymes if using milk-based drinks

Juice based drinks no supplements req

Question 11

Dietetic management

Answer 11

Advice on dose on pancreatic enzyme
Balanced nutrition essential for growth + immune function
Energy req increased 120-150%
Protein 120% RNI
Fat - useful source energy, 35-40% energy, use enzymes
Dietary fibre - increased bulk so may decrease energy intake
Calculated on individual basis
Fat soluble vitamins prescribed due to potential losses