Lecture 25 - Cystic Fibrosis Flashcards
Newborn Screening process?
20+ disorders, 45 babies p/yr diagnosed
Cf phys?
CFTR mutation, Cl- cannot leave cell due to misformed receptor causing NA+ and wateer influx leaving thick sticky mucus
CF newborn screen?
Build up of trypsin (pancreatic enzyme) in blood due to blocked duct
Testing whether baby has Cf or is carrier?
sweat test, genetic test, stool sample for enzymes
Progressions for infant CF?
recurrent pneumonias, progressive lung disease, poor growth
managing baby w CF?
regular review - history, growth, physical signs
Physical signs of CF?
finger clubbing, chest deformity, cough
Management - respiratory testing
oxygen saturation monitoring, lung function testing, radiology
Management - check for infection?
swab, couh suction machine, bronchoscopy, sputum
Treatments - respiratory?
respiratory chest physio, exercise, antibiotics
Treatments - nutrition?
enzyme replacement, vitamin supplement, salt, hugh calorie diet, nutritional supplement, gastrostomy feeding
Treatments - other?
correctors (correcting defect) or potentiators (improving channel opening) - different defects from different genes.
Genetic Counselling Definition?
Communication process aiming at helping individuals, couples and families understnd and adapt to medical, psychological, familial and reproductive implications of genetic contributions specific health conditions
GC topics?
reviewing diagnosis, answering questions, arrange testing, checking coping, referrals
Considerations for GC?
non paternity, informed consent, stress of diagnosis, guilt, future options
