Cystic fibrosis Flashcards
define cystic fibrosis
genetic condition affecting mucus glands
inheritance pattern of cystic fibrosis
autosomal recessive
genetic mutation in cystic fibrosis
mutation of the cystic fibrosis transmembrane conductance regulatory gene
which chromsome is affected in cystic fibrosis
7
what is the most common genetic mutation in cystic fibrosis
delta-F508
-there are many variants
what does the delta-F508 gene code for regarding cystic fibrosis
cellular channels
-particularly a type of chloride channel
prevanlence of cystic fibrosis carriers
1 in 25
prevalence of cystic fibrosis in children
1 in 2500
key conseuqences of cystic fibrosis 3
thick pancreatic and bilary secretions
-cause blockage in ducts
-results in a lack of digestive enzymes like pancreatic lipase in the digestive tract
low volume thick airway secretions
-reduce airway clearance
-causes bacterial colonisation
-susceptible to airway infections
congenital bilateral absence of vas deferens in males
-patients have genetically healthy sperm but no way of getting from the tests to ejaculate-> male infertilitiy
screening for cystic fibrosis 1
screened for at birth with the newborn bloodspot test
measure immunoreactive trypsin levels
-may have raised levels
first sign of cystic fibrosis
meconium ileus
-meconium- first stool baby passes, wihtin 24 hrs anf should be black
in 20% of CF cases the meconisum is thick anf sticky-> stuck and obstructs the bowel
-this is pathognomonic fo rCF
how does meconium ileus present in cystic fibrosis 3
not passing meconium within first 24 hrs
abdominal distention
vomitting
if cystic fibrosis is not picked up at birth what chilldhood signs and symptoms could point to the diseases 3
*-if present how would you proceed
recurrent LRTI
failure to thrive
pancreatitis
*-if these present-> sweat tes and genetic investiagtions indicated
presentation of cystic fibrosis regarding:
ENT 2
nasal polyps
sinusitis
presentation of cystic fibrosis regarding:
respiratory 5
cough
purulent sputum
pneumonia
bronchiectasis
chest deformity
eventual respiratory failure
