CF Flashcards
Causes
Mutation to CFTR protein
- involved in transport of cl into cells
- cl environment controls the action of the cilia
- cl build-up outside the cell
- cilia lose their function due to environment
- causes build up of mucus containg pathogens
- inflammation
Investigation
screening -4 common mutation in UK -5 in scotland bloodspot test at day 5: -immunoreactive trypsogen sweat test; -no overlap with normal
Phe508 deletion is the most common mutation found in europeans
Signs
Antenatal: -echogenic bowel- brighter coloured bowel in ultrasound neonatal: mec ileus: sticky bowel Young children: -recurrent chest infection -inability to thrive Older children and adults: -recurrent chest infection
Symptoms
1-pancreatic dysfunction:
-fat cannot be digested so faeces will appear very white/orange and will float
-lipid soluble vitamins which cannot be digested
2- recurrent chest infection:
-pneumonitis
-abcess
-bronchiectitis
-scarring
ALSO :
-gastric dysmotility- Crohn’s disease, caeliac disease
-abnormal bone profile
-genital infection:
absent vas deferens in males- infertility
Vaginal candidiasis in females- can lead to infertility if poor nutritional values
-heat exhaustion : build up of chlorine containing sweat
-diabetes
-hepatopathy
-sinusitis and nasal polyps
common infection in:
- children
- adults
children: -staph aureus -hemophilius influenzae Adults: -mycobacterium abscessus -pseudomans aeruginosa -bulkholderia cepacia
Treatment
- enteric coated enzymes
- lipid soluble vitamins
- antacids and H+ inhibitors
- high fat diet
In adults:
- FEV< 30
- 2 year survival rate
- hypotension at rest
- hypercapnia- increased CO2 in the blood
- significant weight loss
- REFERRED FOR TRANSPLANT
New therapies:
-Ivacaftor- binds to CFTR and improves transport of Cl
-Antibiotics: beta lactams and aminoglucosides
oral in children, IV in adults
How do symptoms present in adults - stats
80% respiratory and GI
15% just respiratory
5% just GI
What does CFTR stand for
Cystic fibrosis Transmembrane conductance regulator
Ivacaftor
New treatment which targets G551D mutation - affects 5-10% of patients
Binds to CFTR and improves transport of chlorine into the cell
Reduces sweat chlorine
Improves lung function by 10%
Causes weight gain
very expensive
What type of mutation is G551D?
TYPE3/4
Different types of mutation associated with CFTR
1: no production
2: no maturation
3: Blocked regulation- non-activated
4: Decreased conductance- abnormal channels
5: Decreased abundance- scarce
Contraindications for lung transplant
ABSOLUTE`: Malignancy in the past 5 years Dependancy to nicotine, alcohol, smoking Other organ failure Peripheral vascular disease Microbiology issues RELATIVE non-compliance steroids- 20mg a day osteoporosis LOW BMI lack of social support other organ dysfunction surgical risk e.g. previous thoracic surgery
Male infertility operation
Intracytoplasmic sperm injection technique:
- sperm injected straight into egg
- 3 chances of NHS
How to treat respiratory infection in early years
- segregation
- clerance of airways
- mucolytis
- prophylactic antibiotics
- annual influenza vaccinations
ways of airway clearance machines and mechanisms
MACHINES PEP mask- positive expiratory pressure mask Cornet machine/flutter machine High frequency oscillation MECHANISM: percussion and drainage Normal chest breathing Autogenic drainage?
