CF

Question 1

What causes CF?

Answer 1

Error in CFTR protein on chromosome 7

Question 2

What are respiratory symptoms of CF?

Answer 2

Mucus, inflammation& infection= bronchitis, bronchiectasis, fibrosis, pneumothorax, haemoptysis, sinusitis & polyps. Caused by H influenza, S aureus, P aeroginosa.

Question 3

What are alimentary symptoms of CF?

Answer 3

• Secretions, ↓enzymes, ↓HCO3-, ↓motility, maldigestion, malabsorption, reflux causing malnutrition, poor growth, weight loss, deficiency states
• Biliary sludging, gallstones, biliary cirrhosis, pancreatitis leading to hepatic failure (4% =), pancreatitis, pancreatic fibrosis and impaired GTT (CF DM)

Question 4

What are urogenital symptoms of CF?

Answer 4

• 98% infertility in men (atrophy of Vas Deferens)
• Females: cervical mucus, polyps
• Both- delayed puberty

Question 5

What are skin symptoms of CF?

Answer 5

• Salty sweat, salt loss, leading to heat prostration

Question 6

What are neuro CF symptoms?

Answer 6

• Neuropathy, night blindness, hypothalamic involvement

Question 7

What are bone CF symptoms?

Answer 7

Clubbing
Arthropathy
Delayed bone age
Impared bone density
Osteoporosis
Fractures

Question 8

How is CF diagnosed?

Answer 8

clinical
positive screening test
sibling
Sweat test

Question 9

How is CF managed?

Answer 9

• Prevention- Hygiene, vaccination, flu vaccine, penumovax, pseudomonal vaccine.
• Segregation – no camps, no friends, isolation on wards
• Prophylaxis – Flucoxacillin for S aureus and amoxl for H influenzae
• Surveillance
• Eradication
• Suppression
• Aggressive treatment of any infection- combinations of ABX
• Anti inflammatories: Azithromycin, steroids….
• Physical therapies: Airway clearance, bronchodilation and exercise
• Supporting therapies
• Nutrition and diabetes – high calorie, high fat, high protein, pancreatic enzyme supplementation, oral supplements, enteric feeding, vitamin supplements
Management of CF bone disease
• Nutrition, Ca++, Vit D and Vit K
• Exercise, physiotherapy
• Calcitriol, bisphosphonates po - iv, hormonal
Management of CF Liver Disease (Biliary Cirrhosis & portal hypertension (Varices))
• Bloods - Transaminitis, albumen, PT
• USS -“bright liver”, fatty infiltration, nodularity
• Treatment: Ursodeoxycholic acid, Vitamin K
• Transplantation