FN: cystic fibrosis

Question 1

Pathogenesis

Answer 1

1. Auto recessive 1:2000 live Caucasian births

2. mutations in CFTR gene on Chr7 (commonly delta F508)

Question 2

Pathology of CFTr mutation in lungs and sweat glands

Answer 2

Reduced luminal Chloride secretion and increased Na reabsorption - viscous secretions
In sweat glands, reduced Cl and Na reabsorption - salty sweat

Question 3

Clinical features o fneonate

Answer 3

FTT
Meconium ileus
Rectal prolaps

Question 4

Presentation in children/ young adults nose

Answer 4

Nose: nasal polyps, sinusitis

Question 5

Presentation in children/ young adults resp

Answer 5

Resp: cough, wheeze, infections, bronchiectasis, haemoptysis, pneumothoraz, cor pulmonale

Question 6

Presentation in children/ young adults GI

Answer 6

Pancreatic insufficiency: DM, steatorrhoea
distal intestinal obstructino syndrome
gallstones
Cirrhosis (secondary biliary)

Question 7

Presentation in children/ young adults other

Answer 7

Male infertility, oesteoporosis, vasculitis

Question 8

Signs

Answer 8

clubbing and HPOA
cyanosis
Bilateral coarse creps

Question 9

Common organisms early

Answer 9

S. aureus

H. influenza

Question 10

Common organisms late

Answer 10

P. aeruginosa 85%

B. cepacta

Question 11

diagnosis

Answer 11

Sweat test: Na and Cl >60mM
Genetic screening for common mutations
faecal elastase (test pancreatuc exocrine function)
Immunoreactive trysinogen (neonatal screening)

Question 12

Investigations

Answer 12

Bloods: FBC, LFTs, ADEK levels, glucose TT
Sputum MCS
CXR: bronchiectasis
Abdo US: fatty liver, cirrhosis, pancreatitis
Spirometry obstructive defect
Aspergillus serology/skin test (20% develop ABPA)

Question 13

Management general

Answer 13

MDT: physcian, GP, physio, dietician, specialist nurse

Question 14

Chest management

Answer 14

1. Physio: postural drainage, forced expiratory techniques
2. ABx: acute infections and prophylaxis
3. Mucolytics: DNAase
4. Bronchodilators
5. Vaccinate

Question 15

GI Mx

Answer 15

Pancreatic ezymes replacmenet: oancreatin (Creon)
ADEK supplements
Insulin
Ursodeoxycholic acid for impaired hepatic function - stimulates bile secretion

Question 16

Advanced lung disease management

Answer 16

Oxygen
Diuretics (Cor pulmonale)
NIV
Heart/lung transplantation

Question 17

Other

Answer 17

Rx of complications e.g. DM
Fertility and genetic counselling
DEXA osteoporosis screen