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
presentation of cystic fibrosis regarding:
poor growth 3
increased metabolic demand compared to normal child
poor weight gaine and failure to thrive
short stature
how is normal growth acheiveable in cystic fibrosis
pancreatice replacement
agressive ttreatment of chest infections
presentation of cystic fibrosis regarding:
gastrointestinal 7
pancreatic insufficiency
distal intetinal obsturction syndrome
meconium ileus
biliary statis-> liver cirrhosis
poor fat absoprtion -> casues subsequenct defiencey of fat soluble vitamines
steatorrhea
rectal prolapse
presentation of cystic fibrosis regarding:
endocrine 1
may develop diabetes
presentation of cystic fibrosis regarding:
miscellaneous 4
finger clubbing
anaemia of chronic disease
delayed puberty
reduced fertility in females due to abnormal cervical mucus
managment of cystic fibrosis 6
daily physio
continous daily oral ABx- prophyalctic fluclox
may need portacath
creon
fat soluble vitamin supplements
high calorie diet
exacerabtion management in cystic fibroisis 3
double dose of prophyalctic ABx
give planned 2nd line ABx
may need admission and IV ABx
prognosis of cystic fibrois
imporving but still life limiting illness
causes of clubbing in children 7
Hereditary clubbing
Cyanotic heart disease
Infective endocarditis
Cystic fibrosis
Tuberculosis
Inflammatory bowel disease
Liver cirrhosis
particular bacteria that colonise patients with CF lungs 2
staph A
pseudomonas aeruginosa
worry with pseudomona coloniasation of lugns in patients witih Cf
v difficult to get rid of
cna beomce resistant to mutliple ABx
colonisation leads to a SIGNIFICANT increase in morbitidy and mortlaity in patients with CF
treatment of pseudomona colonsiation in CF patinets 2
long term nebulised ABX like tobramycin
oral cirpofloxacin can also be used
monitoring in CF
managed and followed up in specialist clinics, typically every 6 months. They require regular monitoring of their sputum for colonisation of bacteria like pseudomonas. They also need monitoring and screening for diabetes, osteoporosis, vitamin D deficiency and liver failure.
