genetic determinants of lung function Flashcards
5 common respiratory conditions influenced by genetics
- cystic fibrosis
- alpha-1 antitrypsin deficiency
- asthma
- COPD
- lung cancer
how many phases are there in the normal lung function trajectory from birth to death
3
- growth phase (from birth to early adulthood)
- a plateau phase (that lasts for a few years)
- a decline phase resulting from physiological lung ageing
examples of factors that cause low lung function growth trajectory
- genetics
- preterm birth
- early life environmental exposures
- LRTI
- childhood persistent asthma
how many people in UK affected by cystic fibrosis
more than 10,000
what type of genetic disease is cystic fibrosis
autosomal recessive
it is the most common lethal autosomal recessive genetic disorder in caucasians
what causes cystic fibrosis
defect in long arm of chromosome 7 coding for the CFTR protein
how many mutations of CFTR are there
more than 1600
what is the most common mutation causing CF
F508del
what does normal CFTR protein do
moves chloride ions outside of the cell
this controls movement of water in tissues
this moderates production of mucus
what happens when CFTR protein is mutant
does not move chloride ions, causing sticky mucus to build up on the outside of the cell
leads to dysregulated epithelial fluid transport
cycle of lung disease
- microbial attack
- defect in host defence
- respiratory tract infection
- bronchial inflammation
- progressive lung disease
respiratory symptoms of CF
- persistent cough and productive thick mucus
- wheezing and shortness of breath
- frequent chest infections
- sinusitis, nasal polyps
digestive symptoms of CF
- bowel disturbance
- weight loss
- obstruction
- constipation
reproductive problems with CF
- 95% men and 20% women are infertile
- osteoporosis
- arthirtis
issues with antibiotics
- allergies
- renal impairment
- resistance
- access problems
