The mutation is on chromosome 7. 70% are ΔF5O8
Incidence = 1/2000. Carriers = 1/25
Presentation in neonates is failure to thrive, meconim ileus or rectal prolapse.
Later presentation tends to be recurrent respiratory infections, cough, wheeze, bronchiectasis. 85% have steatorrhoea.
Signs include:
- cyanosis
- clubbing
- bilateral course crackles
Diagnosis is by pilocarpine sweat test. Na/Cl>60mmol/l, usually Cl>Na. CXR may show bronchietasis. PCR can pick up 90% of mutations. Faecal elastase is a good screening tool for exocrine pancreatic dysfunction. Spirometry shows obstruction.
Treatment is MDT, physio, enzyme replacement, heart/lung transplant.
Complications include
- diabetes (1/3)
- gallstones
- cirrhosis
- OP
- male infertility (no vas deferens or epididimus)
- vasculitis
- nasal polyps (1/3)
- HPOA (if you don't know what this is you will by the end of the next battle)
- infections
- s.aureus
- h.influenzae
- pseudomonas
- s.pneumoniae
- burkholderia cepacia (gram negative)
- aspergillos
It tends to be the upper lobes of the lungs that are damaged.
Mean age of death ~30.
So to the final battle of the day, HPOA...
