cystic fibrosis in children and adults Flashcards
what is the commonest inherited, life-shortening, disorder amongst N. European populations?
cystic fibrosis
is cystic fibrosis recessive or dominant
recessive
what is the gene prevalence of cystic fibrosis?
1:25
which chromosome does the cystic fibrosis gene lie on?
7
what is the function of cystic fibrosis transmembrane conductance regulator (CFTR)
Cilial collapse
Active transport channel for chloride (HCO3)
Regulates liquid volume on epithelial surface
Reduced chloride (HCO3) efflux
Increased sodium influx via ENaC
Excessive, innate inflammation
Thick, sticky mucus
making a diagnosis with cystic fibrosis?
clinical assessement
sweat test (chloride)
repeat CF mutation analysis
whats the management for people with cystic fibrosis?
Multi-organ disease Specialist multi-disciplinary team (improved long-term outcome) Physician Nurse specialist Physiotherapist Dietitian Psychologist Pharmacist Lung function physiologist/technician Microbiologist Other “ologists” e.g. Diabetes MDT Shared care with local clinics Primary care Surveillance Early treatment of infection
how many classes of CFTR mutations are there?
6
what are presenting features in neonatals for cf?
screening
mec ileus
what are presenting features in infants and children in cf?
recurrent chest infections
failure to thrive
what are presenting features in older children and adults that have cf?
Recurrent chest infections
Nasal polyps and sinusitis
Male infertility
whats the treatment of pancreatic insufficiency?
Enteric coated enzyme pellets¶
High energy diet
Not low fat
Fat-soluble vitamin and mineral supplements
what are the common organisms in CF?
Staphylococcus aureus and Haemophilus influenzae in early years
Pseudomonas aeruginosa later
what drugs will reduce inflammation of CF?
(Ibuprofen*)
Azithromycin¶
(Prednisolone)
how do you prevent infection?
segregation to prevent cross infection airway clearance and adjuncts mucolytics prophylactic antibiotics annual influenza vaccination
what are complications of CF?
GI
Dysmotility
Meconium ileus
Co-existent disease
Hepatopathy (~5-10%)
Upper airway polyps and sinusitis
Dysglycaemia (diabetes)
Bones disease
heat exhaustion
vaginal candidias
what does CF have on impacting a person on child and family?
barriers to making friends increased depression low adherence to time-consuming treatments siblings increased costs to family
what manages multi- organ disease best?
MDT
how does CF impact a child making friends
cough
missing school
different dietry requirements
taking drugs
how does pancreatic insufficiency affect stools?
abnormal stools- pale or orange
greasy or oily
what are the effects of pancreatic insufficiency
abnormal stools
failure to thrive
what are the two cardinal features of CF?
recurrent bronchopulmonary infection
pancreatic insufficiency
what are the effects of recurrent bronchopulmonary infection?
Pneumonitis
Bronchiectasis
Scarring
Abscesses
