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Cystic Fibrosis (Treatment (Regular chest physiotherapy, B2 agonists &…
Cystic Fibrosis
Treatment
Regular chest physiotherapy
B2 agonists & inhaled corticosteroids - symptomatic relief
MRSA present - treat with rifampicin & fucidin
Mucolytics - to clear airways of mucus
Pseudomonal & flu vaccine
Pancreatic enzyme replacement
Prophylaxis antibiotics
Fat soluble supplement (ADEK)
Stop smoking
Screening & treatment for osteoporosis
Education to improve CoL and good nutrition and prompt treatment of exacerbations
Amiloride - inhibits Na transport thus less thick mucus
Lung function and BMI should be recorded at every appointment
Managed by a multidisciplinary team
Bilateral lung transplant
Clinical Presentation
Neonates - failure to thrive, meconium ileum - bowel obstruction due to thick meconium, rectal prolapse
Respiratory - cough, thick mucus, wheeze, recurrent infections, bronchiectasis & airflow limitation, sinusitis, nasal polyps, spontaneous pneumothorax, haemoptysis & breathlessness
The resultant inflammatory response damages the airways and results in progressive bronchiectasis, airflow limitation and eventually respiratory failure
Alimentary - thick secretions, reduced pancreatic enzymes, pancreatic insufficiency, distal intestinal obstruction syndrome, reduced bicarbonate, maldigestion & malabsorption, cholesterol gallstones & cirrhosis, increased incidence of peptic ulcers and malignancy
Frequent respiratory infections soon develop are the presenting feature in neonates
Other - males infertile due to atrophy of vas deferens and epididymis, females able to conceive but often develop secondary amenorrhea, salty sweat, clubbing, osteoporosis
Multi-system disease but in majority of cases the eventual cause of death is related to respiratory disease
Diagnosis
One of more of:
Sweat test will show high Na & Cl
Absent vas deferent and epididymis
GI & nutritional disorders
Genetic screening for known CF mutations
Family history of disease
Faecal elastase test - good at excluding exocrine pancreas disease, will be low or no levels of elastase due to mucus blocking release
Clinical history
Lots of microbiology
Pathophysiology
In the lungs, CFTR dysfunction leads to dehydrated airways surface liquid, mucus stasis, airway inflammation and recurrent infection
The changes in the composition of airway surface liquid predispose the lung to chronic pulmonary infections
Caused by a mutation on chromosome 7 which results in defective CFTR resulting defects leading to a combination of defective Cl airway secretion and increased Na absorption causing increased H2O absorption too, across the epithelium into cells leading to thickened secretion in a number of organs
This process originates in the small airways, leading to progressive airway obstruction and bronchiectasis
Epidemiology
Multi-system disease although respiratory problems are usually the most prominent
Most people with CF also have pancreatic insufficiency
Much less common in Afro-Caribbean and Asian people
Risk Factors
Family history
Caucasian
One of the most commonest lethal autosomal RECESSIVE conditions in CAUCASIANS