CF

Question 1

Define CF?

Answer 1

Cystic Fibrosis. Genetically recessive. Characterised by abnormal mucus production due to faulty chloride channel. Affect mainly lungs and digestive system

Question 2

Aetiology?

Answer 2

Caused by mutation in gene that encodes CFTR cystic fibrosis transmembrane conductance regulator, located at luminal epithelial tissues. Over 1000 mutations identified deltaF508 most common

Question 3

Pathogenesis

Answer 3

Faulty CFTR causes faulty movement of water and salt leading to-> reduced surface liquid-> thick mucus->reduced bacterial clearance and inactive defensis

Question 4

Levels of function?

Answer 4

No known abnormalities until drop below 10% working. 10% fertility, 5% sweat abnormalities, 4,5% progressive pulmonary disease, <1% classic pancreatic insufficiency and recurrent pulmonary infections

Question 5

Presentation?

Answer 5

Newborns: meconium ileus, jaundice, screening
Infancy/children: faltering growth, abnormal stools, respiratory infections/symptoms, nasal polyps
Adults: infertility, bronciectasis

Question 6

Diagnosis?

Answer 6

Newborn Screening (heel-prick-tests). Symptoms: faltering growth and infections. Clinical, sweat test (>60mmol/L/chloride), genetic testing. Faecal elastase indirect measure of pancreatic function

Question 7

Incidence?

Answer 7

70% diagnosed by age 1, 90% by age 12, Older have mild presentation (often single organ, non-classic)

Question 8

Symptoms?

Answer 8

Frequent chest infections, coughing, wheezing/shortness of breath, abnormal bowel movements, difficulty gaining weight, infertility

Question 9

Clinical presentation?

Answer 9

Many symptoms^ pancreatic insufficiency, wasting, steatorrhoea, finger clubbing, liver disease, osteoporosis, diabetes

Question 10

Pathophysiology?

Answer 10

Plugging of airways-> infections-> inflammation-> tissue damage-> progressive lung disease-> respiratory failure

Question 11

Sepsis, bronchiectasis

Answer 11

Bronchopulmonary sepsis (from first weeks of life), widening of lungs (more infections)

Question 12

Medical management?

Answer 12

Manage chest infections (antibiotics, physio therapy, exercise) help shift mucus, enzyme capsules (digestion), mucolytics, high fat diet

Question 13

Pulmonary exacerbation?

Answer 13

Worsening of condition at a faster rate than normal, often triggered by infection. Treat with antibiotics (high dose, long). Symptoms: fever, cough, worsening breathlessness, O2sat worsens, FEV, weight loss, increased respiratory rate.

Question 14

Aim of treatment?

Answer 14

Improved expiratory volume
Reduce exacerbation frequency
Suppress bacterial burden
Increase quality of life

Question 15

Complications?

Answer 15

Pneumothorax, Haemoptysis, Allergic bronchopulmonary aspergillosis (severe allergic reaction)
Respiratory failure

Question 16

Abdominal disease in CF?

Answer 16

Malabsorption, reflux, blockages/strictures. Malnutrition, pancreatitis, constipation, gallstones, DIOS, CF diabetes

Question 17

Prevalance?

Answer 17

In UK 1:25 has gene, 10K

Question 18

CF diabetes?

Answer 18

CFTR gene-> thick mucus-> pancreatic ducts block-> fatty infiltration, fibrosis -> decreased insulin-> hyperglycaemia-> insulin resistance (sepsis, steroids)

Question 19

Morbidity?

Answer 19

Diabetes complications, low BMI, pulmonary

Question 20

Reasons for improving survival?

Answer 20

Better antibiotics, more aggressive approach, physiotherapy, improved nutrition and CF centres