Cystic fibrosis and bronchiectesis Flashcards
What is CF?
- Autosomal recessive disorder
- Abnormal chloride channel=> Hyper viscosity of mucus.
- Results in organ damage.
-Commonly affects Resp. and GI systems (is multisystem, can affect anywhere).
Where is the CFTR gene found?
On the long arm of Cr 7
What are the different classes of CFTR mutations?
Class 1= Defective synthesis Class 2= Defective processing Class 3= Defective regulation Class 4= Defective processing Class 5= Reduced quantity Class 6= Increased turnover
Pathophysiology of CF leading to bronchiectesis?
CFTR Mutation=> Abn. CFTR protein=> Defective Cl- transport=> Hyper viscous mucus=> Defective mucociliary clearance=> Bacterial colonisation=> Neutrophilic inflamm=> Bronchiectesis.
Clinical manifestations and presentation of CF?
Pan bronchiectesis Nasal polyps/sinusitis Pancreatic insufficiency Diabetes Renal disease Liver disease Intestinal obstruction (DIOS) CBAVD Osteoporosis
Effects of CF on children and infants?
Infants - Failure to thrive - Meconium Ileus Children - Failure to reach growth milestones - Recurrent chest infections - Abdominal cramps/diarrhoea
Radiological findings in CF?
CXR - Some opacities near hila - Hyperinflation of lungs CT - Tram lines - Large dilated bronchioles throughout
What organisms commonly infect CF patients?
P. aeruginosa
S. aureus H.influenza MRSA B. cepacia Atypical mycobacteria Aspergillus Candida
What are some physical findings on examination of a CF patient?
Clubbing
Cyanosis
Low BMI
Delayed puberty
Hyperinflation May have a port Crepitations Wheezes (May or may not have added sounds)
May have PEG tube
Hepatosplenomegaly
What are the contraindications for lung transplants in CF patients?
- B. cepacia infection
- BMI <17
What is bronchiectesis?
Obstructive lung disease.
Irreversible dilatation of bronchioles and damage to muscle and elastic tissue.
