Cystic fibrosis in children and adults Flashcards
what is cystic fibrosis?
it is a hereditary disorder affecting the exocrine glands
what does cystic fibrosis cause?
it causes the production of abnormally thick much, leading to the blockage of the pancreatic ducts, intestine and bronchi and often resulting in respiratory infection
give an example of a recessive disease
cystic fibrosis
what does it mean that cystic fibrosis is a recessive disease?
it means a person must have a mutation in both copies of the CFTR gene to have cystic fibrosis
if someone has a mutation in only one copy of the CFTR gene and the other copy is normal does he/she have cystic fibrosis?
no, he/she is a cystic fibrosis carrier, 25% of children however will have cystic fibrosis
what are possible complications of cystic fibrosis?
nasal polyps chronic sinusitis persistent sinusitis bronchiectasis atelectasis pneumothorax haemoptysis hypertrophic pulmonary osteoarthropathy allergic bronchopulmonary aspergillosis
describe the management steps of pancreatic insufficiency
lifestyle modification avoidance of fatty food limitation of alcohol intake cessation of smoking consumption of a well-balanced diet vitamin supplementation
describe the management of chest infections
chest infections can be categorised into bronchitis and pneumonia, pneumonia is usually bacterial and does require antibiotic treatment
what is the role of transplantation in cystic fibrosis?
both lungs are transplanted to reduce the risk of infection spreading from the cystic fibrosis lung to the new lung,
it is common for individuals with cystic fibrosis to receive double lung transplants
what is the educational impact of cystic fibrosis on the child and the family?
when people with cystic fibrosis attend school, they may need special permissions, services or accommodations to maintain their health
does cystic fibrosis affect mental ability?
no
do babies with only one gene mutation found on a newborn screening result generally have cystic fibrosis?
no
do babies with 2 cystic fibrosis gene mutations likely to have cystic fibrosis?
yes
what does it mean by being exocrine pancreatic insufficient?
it means there is the inability to properly digest food die to the lack of digestive enzymes made by the pancreas
when is exocrine pancreatic insufficiency found?
in humans afflicted with cystic fibrosis and shwachman-diamond syndrome
what are 2 cardinal features of cystic fibrosis?
recurrent bronchopulmonary infection
and respiratory tract infections
state 4 recurrent bronchopulmonary infections
pneumonitis
bronchiectasis
scarring
abscesses
what is life expentacy for children born and diagnosed with cystic fibrosis for males and females? (this statistic is from 2010)
life expectancy
37 years - females
40 years - males
what are other manifestations of cystic fibrosis?
GI dysmotility CI co-existent disease hepatopathy upper airway polyps upper airway sinusitis diabetes osteopenia arthropathy heat exhaustion bilateral absence of vas deferent vaginal candidiasis
what are airway clearance techniques?
they are different types of breathing exercises that help you get sputum out of your lungs
state 3 airway clearance techniques
percussion and drainage
autogenic drainage
active cycle of breathing
state 3 airway clearance adjuncts
positive expiratory pressure mask
cornet/flutter
high frequency chest wall oscillation
what is a mucolytic?
it is any agent which dissolves thick mucus, used to help relieve breathing difficulties,
what help loosen and clear mucus from respiratory passages and make thick mucus thinner and easier to cough up?
mucolytics
