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Flashcards in FN: cystic fibrosis Deck (17):
1

Pathogenesis

1. Auto recessive 1:2000 live Caucasian births
2. mutations in CFTR gene on Chr7 (commonly delta F508)

2

Pathology of CFTr mutation in lungs and sweat glands

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

3

Clinical features o fneonate

FTT
Meconium ileus
Rectal prolaps

4

Presentation in children/ young adults nose

Nose: nasal polyps, sinusitis


5

Presentation in children/ young adults resp

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

6

Presentation in children/ young adults GI

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

7

Presentation in children/ young adults other

Male infertility, oesteoporosis, vasculitis

8

Signs

clubbing and HPOA
cyanosis
Bilateral coarse creps

9

Common organisms early

S. aureus
H. influenza

10

Common organisms late

P. aeruginosa 85%
B. cepacta

11

diagnosis

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

12

Investigations

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)

13

Management general

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

14

Chest management

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

15

GI Mx

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

16

Advanced lung disease management

Oxygen
Diuretics (Cor pulmonale)
NIV
Heart/lung transplantation

17

Other

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

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