Cystic Fibrosis - Adults and Children Flashcards
What sort of genetic condition is cystic fibrosis?
Autosomal recessive
What does the CFTR (cystic fibrosis conductance regulator) do?
Transport channel for chloride:
Regulated liquid vol. on epithelial surface (pumps Cl out)
Cilia collapse (needs fluid around them)
Excessive inflammation
In CF what happens to the mucous in the respiratory tract?
Becomes thicker as it contains less water - causing cilia collapse and excessive inflammation
What are the common presentations of CF in infants ad young children?
Recurrent chest infections
Failure to thrive
Is CF screened for?
Yes, in neonates 5 days after birth:
Bloodspot test for immune-reactive trypsinogen
If positive, mutation analysis
Referred for sweat test
What are 2 cardinal features of CF?
Pancreatic insufficiency
Recurrent bronchopulmonary infection
Describe the abnormal stool associated with the pancreatic insufficiency in CF
Pale and orange
Very offensive
Greasy or oily
Why do CF patients produce abnormal stools?
Their pancreases are abnormal and don’t produce the appropriate digestive enzyme, especially lipid digesting enzymes
What are the two signs of pancreatic insufficiency?
Abnormal stool
Failure to thrive
How is the pancreatic insufficiency treated?
Enteric coated enzyme pellets
High energy diet
Fat-soluble vitamin and mineral supplement
H2 antagonist or proton pump inhibitor (to help get vitamins through stomach to small intestine)
What are four effect of recurrent bronchopulmonary infections?
Pneumonitis
Bronchiectasis
Scarring
Abscesses
What is the management of CF on early years (pre-infection)?
Annual influenza vaccination Prophylactic antibiotics Segregation/cohorting to prevent cross infection Airway clearance and adjunct Mucolytics
What are the common organisms that cause infections?
Staph areus
H influenzae
Psuedomonas aeruginosa (later years)
What is the treatment of CF patients with chronic infection?
Suppress bacterial load
Treat infective exacerbations
Anti-inflammatory drugs: ibuprofen, azithromycin, prednisolone
What are the GI effects?
Dysmobility: meconium ileus, gastro-oesophageal reflux, constipation
Co-existent disease: crohn’s and coeliac
Hepatopathy
What is meconium ileus?
Bowel obstruction that occurs when the meconium in the intestine is thick and sticky
Name other manifestations of CF
Diabetes Bone: osteopenia Heat exhaustion Bilateral absence of vas deferent Vaginal candidacies
Where does the CF gene lie?
On the long arm of chromosome 7
How many mutations can occur on chromosome 7?
Over 1800, with different mutations resulting in different phenotype of disease
How does abnormal CTFR lead to increased thickness of mucous on the epithelium?
Impaired Cl transport and enhance Na transport in so drawn water to inside of epithelial cells, causing thick mucous in the airways
Does CF affect fertility in men?
Yes, blocked/absent vas deferens (95% male infertile)
How does CF affect fertility in women?
They are still fertile, although poor nutrition may affect chances of conception
What steps must be taken before a women with CF becomes pregnant?
Careful planning
Screening partner
Counselling for long term impact of condition on family
Optimum health
What are indications to carry out lung transplant?
FEV1 < 30% predicted Weight loss Hypoxia at rest Hypercapnia Recurrent worsening sepsis Worsening QOL
What are three questions that must be considered before lung transplant?
Is the condition bad enough?
Is the rest of the body healthy enough?
Does the patient want to take risk?
What are contraindications to lung transplant?
Organ failure Malignancy within 5yrs PVD Drug, nicotine, alcohol dependency Systemic infection Smoking - must prove they've quit for over 6 months
What are relative contraindications to lung transplant?
Steroid > 20mg daily
No social support
Osteoporosis
Low BMI
What are the psychosocial issues associated with lung transplant?
Hope
Fear
Guilt/conflict
Stress
What are the end of life issues?
Deteriorating health/death hard to talk about
Important to be open and available for discussion
Patient/family to plan and prepare
Are there any screening for antenatal screening for CF?
No
