466318
Description
Mind Map by v.djabatey, updated more than 1 year ago
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Created by v.djabatey
almost 11 years ago
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Cystic fibrosis- epidem, pathophysiology, clinical features
- epidemiology
- commonest life-limiting autosomal recessive condition in Caucasians
- incidence
- 1 in 2500 live births
- 1 in 2500 live births
- carrier rate
- 1 in 25
- 1 in 25
- average life expectancy
- in the 40s
- in the 40s
- defective protein
- cystic fibrosis transmembrane conductance regulator
- cAMP-dependent Cl- channel
- on cell membranes
- gene on chromosome 7
- most freq mutation in UK
- delta F508
- need to ID gene mutation in a family
- to allow prenatal diag
- to allow carrier detection in wider family
- to allow prenatal diag
- need to ID gene mutation in a family
- delta F508
- cAMP-dependent Cl- channel
- cystic fibrosis transmembrane conductance regulator
- correlation btw genotype & phenotype
- stronger
- CF gastrointestinal disease
- CF gastrointestinal disease
- weaker
- CF lung disease
- CF lung disease
- other factors important to determine severity
- different microbial pathogens
- passive smoking
- social deprivation
- other modifier genes
- different microbial pathogens
- stronger
- commonest life-limiting autosomal recessive condition in Caucasians
- Pathophysiology
- multisystem disorder
- abnormal ion transport across epithelial cells
- -> reduction in airway surface layer
- -> impaired ciliary function
- retention of mucopurulent secretions
- ->chronic endobronchial infection
- caused by e.g. Pseudomonas aeruginosa
- caused by e.g. Pseudomonas aeruginosa
- ->chronic endobronchial infection
- retention of mucopurulent secretions
- -> impaired ciliary function
- dysregulation of
- inflammation
- defence vs infection
- inflammation
- instestine
- production of thick, viscid meconium
- ->meconium ileus
- 10-20% of CF infants
- 10-20% of CF infants
- ->meconium ileus
- blockage of pancreatic ducts
- -> pancreatic enzyme deficiency
- -> malabsorption
- -> malabsorption
- -> pancreatic enzyme deficiency
- production of thick, viscid meconium
- abnormal sweat gland function
- too high [Na] & [Cl-] in sweat
- too high [Na] & [Cl-] in sweat
- -> reduction in airway surface layer
- multisystem disorder
- clinical features
- presentation
- on Guthrie test
- heel-prick blood spot biochem screen
- heel-prick blood spot biochem screen
- poor growth
- malabsorption
- recurrent chest infections
- chronic infection
- bacteria
- initially Staph aureus
- subsequently
- P.aeruginosa
- Burkholderia spp.
- P.aeruginosa
- subsequently
- initially Staph aureus
- due to viscid mucus in smaller airways
- ->
- bronchial wall damage
- bronchiectasis
- abscess formation
- bronchial wall damage
- bacteria
- on Guthrie test
- Sx
- persistent loose cough
- productive of purulent sputum
- productive of purulent sputum
- persistent loose cough
- on examination
- hyperinflation of chest
- due to air trapping
- due to air trapping
- coarse inspiratory creps (crackles)
- +/- expiratory wheeze
- +/- expiratory wheeze
- finger clubbing
- with established disease
- with established disease
- hyperinflation of chest
- death due to respiratory failure
- 95% of pts
- 95% of pts
- pancreatic exocrine insufficiency
- -> maldigestion & malabsorption
- steatorrhoea
- freq large, pale, offensive & greasy stools
- freq large, pale, offensive & greasy stools
- steatorrhoea
- -> failure to thrive if untreated
- diag by demonstrating low elastase in faeces
- lipase, amylase and proteases lacking
- -> maldigestion & malabsorption
- neonatal period
- meconium ileus
- 10-20% of CF pts
- inspissated meconium->
- instestinal obstruction
- vomiting
- abdo distension
- failure to pass meconium in 1st few days of life
- vomiting
- instestinal obstruction
- Rx
- gastrografan enemas initially
- surgery
- gastrografan enemas initially
- 10-20% of CF pts
- meconium ileus
- presentation
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