Cystic fibrosis- epidem, pathophysiology, clinical features

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.

Created by v.djabatey almost 6 years ago
Cystic fibrosis
Laryngeal & tracheal infections
Cell Structure
Biological molecules
Respiratory System
Chronic Respiratory Conditions
Kirsty Jayne Buckley
Respiratory System Year 2/
Sole C
Respiratory System 2nd Year PMU Anatomy
Med Student
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 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
1.6 correlation btw genotype & phenotype
1.6.1 stronger CF gastrointestinal disease
1.6.2 weaker CF lung disease
1.6.3 other factors important to determine severity different microbial pathogens passive smoking social deprivation 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 -> impaired ciliary function retention of mucopurulent secretions ->chronic endobronchial infection caused by e.g. Pseudomonas aeruginosa
2.2.2 dysregulation of inflammation defence vs infection
2.2.3 instestine production of thick, viscid meconium ->meconium ileus 10-20% of CF infants blockage of pancreatic ducts -> pancreatic enzyme deficiency -> malabsorption
2.2.4 abnormal sweat gland function too high [Na] & [Cl-] in sweat
3 clinical features
3.1 presentation
3.1.1 on Guthrie test 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 bacteria initially Staph aureus subsequently P.aeruginosa Burkholderia spp. due to viscid mucus in smaller airways -> bronchial wall damage bronchiectasis abscess formation
3.2 Sx
3.2.1 persistent loose cough productive of purulent sputum
3.3 on examination
3.3.1 hyperinflation of chest due to air trapping
3.3.2 coarse inspiratory creps (crackles) +/- expiratory wheeze
3.3.3 finger clubbing 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 steatorrhoea 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 10-20% of CF pts inspissated meconium-> instestinal obstruction vomiting abdo distension failure to pass meconium in 1st few days of life Rx gastrografan enemas initially surgery

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