1 - Paeds - Resp - Cystic Fibrosis Flashcards
commonest ___ in caucasian? incidence in births and carrier rate? life expectancy?
commonest caucasian autosomal recessive condition - incidence 1/2500 live births, carrier rate 1/25
life expectancy - mid 40’s
pathology - defective protein? gene defect found where? most common mutation? other factors important in severity?
CFTR
cr7
>1000 - most common - delta F508
microbial pathogens, passive smoking, social deprivation
why is it a multi system disorder - physiopathology
- 4 steps - causes what?
abnormal ion transport across epithelial cells>reduced airway surface liquid layer>impaired ciliary function>retention of mucopurulent secretions
causes chronic endobrachial infections eg PA
what does defective CFTR cause? what happens in intestine? what can this cause?
dysregulation of inflam and defence vs infection
in intestine - thick viscid meconium is produced - > ileus in 10-20% infants
what can also be blocked easily? causing what? what elses function is abnormal? causing?
pancreatic ducts also blocked > enzyme def and malabsorption
abnormal sweat gland function > excessive conc of Na and Cl in sweat
in UK how are most kids with CF found? how do kids present clinically?
by newborn screening - part of guthrie test
recurrent chest infections, poor growth, malabsorption
why do CF pts get chronic infections
initial pathogens? subsequent pathogens?
viscid mucus in smaller airways> damage of bronchial wall, bronchiectasis and abscess formation
initial - S aureus and H influenza
subsequent - PA or burkholderia
child Sx? O/E?
persistent, loose cough producing purulent sputum - O/E - hyperinflation of chest due to air trapping, coarse insp creps +/ exp wheeze
clubbing in established disease
what do 95% die of? what do >90% kids have? causing? if untreated?
resp failure
pancreatic exocrine insufficiency . maldigestion/malabs
untreated> failure to thrive and passing frequent, large, pale, offensive, greasy tools
10-20% CF infants present with? - what does this give? 4 things
how to treat this?
neonatally with meconium ileus, meconium causes intestinal obstruction and vomiting, abdo distension and failure to pass meconium in first few days of life
gastrografin enema/surgery
what is an increasing complication moving into adulthood? what will 1/3 pts also show?
diabetes due to panc insuff
evidence of liver disease with hepatomegaly on palpation, LFTs, or USS
what does the hepatomegaly rarely progress to? what are v successful for CF pts? what are also common but can be cleared by oral gastrografin
rarely to liver failure, cirrhosis, portal htn
liver transplants
intestinal obstruction
what difference is there between men and women regarding later complications
females retain fertility
males almost always infertile due to blockage of vas deferens
what may be increased in CF pts? what else must be considered?
must consider psych implications of disease
chest infections, other late resp conditions such as pneumothorax and life threatening haemoptysis
