Cystic Fibrosis Flashcards
What are the common and uncommon clinical features of CF in infants/young children?
Recurrent chest infection Failure to thrive (1st year of life) Rectal prolapse Oedema Hyperproteinaemia Anaemia Pseudo bartters syndrome
What are the common and uncommon clinical features of older children/adults with CF?
Recurrent chest infection Nasal polyps Sinusitis Infertility in males Pseudo bartters syndrome Acute pancreatitis Liver disease Atypical mycobacteria
What are the common and uncommon clinical features of CF in neonates?
Screening Mec ileus Gut atresia Obstructive jaundice Vitamin deficiency
What are the common and uncommon clinical features of antenatal CF?
Chorionic villus testing
Echogenic bowel
Perforated meconium ileum
What drug is used to treat CF and what does it target specifically?
Ivacaftor.
It targets the CFTR gene which is gating the movement of chloride ions into and out of the cell.
What is the most common mutation in north European CF patients?
Phe508del
What does CFTR stand for?
Cystic fibrosis transmembrane conductance receptor
What are the functions of CFTR?
Regulates liquid volume on the epithelial surface: - reduces chloride efflux - increases sodium influx Cillia collapse Excessive inflammation
What are 2 main cardinal features of CF?
Recurrent bronchopulmonary infection and Pancreatic insufficiency
Describe the pancreatic insuffiency that 85-95% of CF patients suffer from.
Unable to digest fat:
Stool will be pale/orange and oily/greasy
Failure to thrive ( may be able to thrive better on breast milk). Results in defence of fat soluble vitamins and minerals.
What treatment is given for pancreatic insuffiency?
High energy, high fat diet
Fat soluble vitamin supplements
Enteric coated enzyme pellets
H2 antagonist and / or proton pump inhibitor
What recurrent bronmchopulmonary infections are common with CF?
Bronchiectasis, pneumonitis, scarring and abscesses.
What is done for the management of recurrent bronchopulmonary infection in patients with CF?
Pre infection cautions:
Prevent cross contamination, airway clearance and adjuncts, mucolytics, prophylactic antibiotics, annual influenza vaccine.
Treatment for chronic infection:
Suppress bacterial load, treat infective exacerbation, reduce inflammation i.e. ibuprofen, azithromycin and prednisolone.
What organisms are mostly responsible for chronic infection in patients with CF?
Staph. Aureus, haemophilia influenzae and pseudomonas aerguinosa
State GI manifestations of CF.
Gastro oesophageal reflux Meconium ileus Distal intestinal obstruction Constipation/ rectal prolapse CF is usually co existent with crohns or coeliac disease
State other manifestations of CF.
Upper airway polyps and sinusitis
Diabetes
Bones i.e. osteopenia and anthropathy
Heat exhaustion
Bilateral absence of vas deferens (infertility in males)
Vaginal candidiasis (stress inconsistance)
Name 4 airway clearance adjuncts.
Cornett / flutter
Mucolytics
Positive expiratory pressure (PEP) mask
High frequency chest wall oscillation
regarding the heart, what can CF lead to?
cor pulmonale
after a double lung transplant, what is gradual attrition due to? (reducing strength/ functionality)
bronchiolitis obliterans
what benefits does Ivacaftor have?
improves lung function by 10%
reduces sweat chloride
weight gain
feel much better
what are the indications for a lung transplant?
rapidly deteriorating lung function FEV1 <30% predicted life threatening exacerbations life expectancy 2 years hypoxia / desaturations on exercise hypercapnia
stephotrophomonas maltophillia usually occurs after what infection?
pseudomonas aeruginosa
but it can occur as a first Gram negative infection
what infections are acquired from other CF patients?
pseudomonas aeruginosa
burkholderia cepacia
what infections is usually acquired from hospitals?
pseudomonas aeurginosa
where does the CFTR gene lie?
on the long arm of chromosome 7
what affects do the different classes of CFTR mutations?
on the membrane surface:
- little to no CFTR channels
- some CFTR channels
- gating CFTR channels (not allowing any Cl in)
- conductance (not allowing any Cl out)
what is the Gurthrie test and when is it carried out?
new born bloodspot test which screens for CF on day 5
some CF patients are deficient in what vitamin?
vitamin E
what is the sweat chloride value which indicates CF?
equal to or greater than 60 mol/litre
what is the sweat chloride value which makes CF unlikely?
equal to or greater than 29 mol/litre
39 is age >6 months
what are the 3 main airway clearance techniques?
percussion and drainage
autogenic drainage
active cycle of breathing
how do mucolytics work?
they increase the viscosity of mucous due to release of DNA from neutrophils
what are the 2 main types of mucolytics?
DN-ase (alfadornase)
hypertonic saline
what treatment can be given to CF males who are infertile?
intra-cytoplasmic sperm injection
