Genetic Disaeases Of The Lungs Flashcards
What is a monogenic disease?
Monogenic disorders (monogenic traits) are disorders caused by variation in a single gene and are typically recognized by their striking familial inheritance patterns
What may cause a low lung function trajectory?
What may be a possible catch up?
Genetic, preterm birth, early life exposure to smoke and other toxins.
Catch up - genetics, diet, physical activity
What happens to lung trajectory throughout life, what happens if you smoke?
Decreases slowly throughout life however if you smoke it declines more rapidly leading to COPD
What is cystic fibrosis?
What is the chromosome affected and what protein? What is the mutation called?
It is a chronic genetic condition, caused by a autosomal recessive genetic disorder in Caucasians.
Multi-organ involvement
More than 10,000 people affected in the UK
LE - 47 years of age…
Affects chromosome 7 long arm which codes fro the cystic fibrosis transmembrane regulator (CFTR) protein. The most common mutation is the F508del mutation.
How many people are carriers of CF in the UK?
How many births affected?
1: 25
1: 2,500 births
What happens to the CFTR protein to cause CF?
Why is this harmful?
The mutant CFTR channel does not move Cl- causing sticky mucus to build up on the outside of the cell.
Leads to a build up of mucus in airways and as it cant be moved leads to an increased risk of infection in the lungs.
CF can also cause bronchitis and bronchiectasis due to infection and inflammation of the bronchi…
How to diagnose CF?
Genetic profile
Clinical symptoms
Raise skin salt
Infertility clinics - late diagnosis
90% diagnosed by 8 years of age
What are the symptoms of CF?
Cough, thick mucus Wheeze and shortness of breath Sinusitis Reproductive issues - more common in men Bowl disturbances Low BMI Constipation Arthritis
What are some of the complications of CF?
Bronchiectasis
Pneumothorax
Insulin dependent diabetic
Distal intestinal obstruction syndrome
What is a portacath?
Extra info
A port-a-cath, also referred to as a port, is an implanted device which allows easy access to a patient’s veins. A port-a-cath is surgically-inserted completely beneath the skin and consists of two parts – the portal and the catheter.
Issues with frequent antibiotic use?
Allergies to antibiotics
Renal impairment
Resistance - 2 used at once
Access problems — infection - portacath used…
Treatment overview of someone with CF:
Segregation in hospitals to stop spreading and catching infections.
Check up every 3 months
Physio and exercises to clear airway
Nutrition - pancreatic enzymes, high calorie. Diet (as usually very low BMI).
Psychological support
Drugs to manage CF
Antibiotics - infections
Salbutamol - bronchodilation
Steroids - inflammatory
Insulin - diabetes
Most important drugs in treatment of CF?
Ivacaftor
- increases CFTR channel opening time
- works for class III mutation
Orkambi
- contains both ivacaftor and lumacaftor
- lumacaftor - is a CFTR corrector
- for the F508del mutation
Challenges to treating CF?
Adherence levels
High cost
Allergies
Resistance to drugs
