Cystic fibrosis- epidem, pathophysiology, clinical features

v.djabatey
Mind Map by , created almost 6 years ago

Paediatrics (Respiratory) Mind Map on Cystic fibrosis- epidem, pathophysiology, clinical features, created by v.djabatey on 01/06/2014.

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v.djabatey
Created by v.djabatey almost 6 years ago
Cystic fibrosis
v.djabatey
Laryngeal & tracheal infections
v.djabatey
Pneumonia
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Cell Structure
daniel.praecox
Biological molecules
sadiaali363
Respiratory System
Addeana
Chronic Respiratory Conditions
Kirsty Jayne Buckley
Respiratory System Year 2/
Sole C
Respiratory System 2nd Year PMU Anatomy
Med Student
Bronchiolitis
v.djabatey
Cystic fibrosis- epidem, pathophysiology, clinical features
1 epidemiology
1.1 commonest life-limiting autosomal recessive condition in Caucasians
1.2 incidence
1.2.1 1 in 2500 live births
1.3 carrier rate
1.3.1 1 in 25
1.4 average life expectancy
1.4.1 in the 40s
1.5 defective protein
1.5.1 cystic fibrosis transmembrane conductance regulator
1.5.1.1 cAMP-dependent Cl- channel
1.5.1.2 on cell membranes
1.5.1.3 gene on chromosome 7
1.5.1.4 most freq mutation in UK
1.5.1.4.1 delta F508
1.5.1.4.1.1 need to ID gene mutation in a family
1.5.1.4.1.1.1 to allow prenatal diag
1.5.1.4.1.1.2 to allow carrier detection in wider family
1.6 correlation btw genotype & phenotype
1.6.1 stronger
1.6.1.1 CF gastrointestinal disease
1.6.2 weaker
1.6.2.1 CF lung disease
1.6.3 other factors important to determine severity
1.6.3.1 different microbial pathogens
1.6.3.2 passive smoking
1.6.3.3 social deprivation
1.6.3.4 other modifier genes
2 Pathophysiology
2.1 multisystem disorder
2.2 abnormal ion transport across epithelial cells
2.2.1 -> reduction in airway surface layer
2.2.1.1 -> impaired ciliary function
2.2.1.1.1 retention of mucopurulent secretions
2.2.1.1.1.1 ->chronic endobronchial infection
2.2.1.1.1.1.1 caused by e.g. Pseudomonas aeruginosa
2.2.2 dysregulation of
2.2.2.1 inflammation
2.2.2.2 defence vs infection
2.2.3 instestine
2.2.3.1 production of thick, viscid meconium
2.2.3.1.1 ->meconium ileus
2.2.3.1.1.1 10-20% of CF infants
2.2.3.2 blockage of pancreatic ducts
2.2.3.2.1 -> pancreatic enzyme deficiency
2.2.3.2.1.1 -> malabsorption
2.2.4 abnormal sweat gland function
2.2.4.1 too high [Na] & [Cl-] in sweat
3 clinical features
3.1 presentation
3.1.1 on Guthrie test
3.1.1.1 heel-prick blood spot biochem screen
3.1.2 poor growth
3.1.3 malabsorption
3.1.4 recurrent chest infections
3.1.5 chronic infection
3.1.5.1 bacteria
3.1.5.1.1 initially Staph aureus
3.1.5.1.1.1 subsequently
3.1.5.1.1.1.1 P.aeruginosa
3.1.5.1.1.1.2 Burkholderia spp.
3.1.5.2 due to viscid mucus in smaller airways
3.1.5.3 ->
3.1.5.3.1 bronchial wall damage
3.1.5.3.2 bronchiectasis
3.1.5.3.3 abscess formation
3.2 Sx
3.2.1 persistent loose cough
3.2.1.1 productive of purulent sputum
3.3 on examination
3.3.1 hyperinflation of chest
3.3.1.1 due to air trapping
3.3.2 coarse inspiratory creps (crackles)
3.3.2.1 +/- expiratory wheeze
3.3.3 finger clubbing
3.3.3.1 with established disease
3.4 death due to respiratory failure
3.4.1 95% of pts
3.5 pancreatic exocrine insufficiency
3.5.1 -> maldigestion & malabsorption
3.5.1.1 steatorrhoea
3.5.1.1.1 freq large, pale, offensive & greasy stools
3.5.2 -> failure to thrive if untreated
3.5.3 diag by demonstrating low elastase in faeces
3.5.4 lipase, amylase and proteases lacking
3.6 neonatal period
3.6.1 meconium ileus
3.6.1.1 10-20% of CF pts
3.6.1.2 inspissated meconium->
3.6.1.2.1 instestinal obstruction
3.6.1.2.1.1 vomiting
3.6.1.2.1.2 abdo distension
3.6.1.2.1.3 failure to pass meconium in 1st few days of life
3.6.1.3 Rx
3.6.1.3.1 gastrografan enemas initially
3.6.1.3.2 surgery

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