Cystic Fibrosis Flashcards
What is the inheritance pattern for CF?
Autosomal recessive
What is effected in CF?
The CFTR protein which is a Cl- transporting channel
How do you diagnose CF?
One or more characteristic phenotypic features OR a history of CF in a sibling OR a positive newborn screening test result
AND
An increased sweat chloride concentration (>60) OR identification of two CF mutations OR demonstration of abnormal nasal epithelial ion transport
What does the newborn screening test for CF look for?
Performed when the baby is 1 week old, looks for IRT. If abnormal then have sweat test (Gold standard)
What are the common presentations of CF?
Meconium Ileus
Intestinal malabsorption
Recurrent chest infections
Newborn screening
What is Meconium Ileus?
The bowel is blocked in a newborn CF infant due to sticky secretions. Presents with signs of intestinal obstruction soon after birth with bilious vomiting, abdominal distension and delay in passing meconium
What is the main cause for Intestinal malabsorption in CF patients?
Severe deficiency in pancreatic enzymes
What are some of the features of CF?
Sinusitis Pancreatic enzyme insufficiency Nasal polyps Recurrent LRTI Bronchiectasis Abnormal sweat secretions Clubbing Liver disease/Portal HTN Gallstones DIOS Steatorrhoea Osteoporosis Male infertility Arthritis
What are some of the complications of CF?
Respiratory infections
Low body weight
Distal Intestinal Obstruction Syndrome (DIOS)
CF related diabetes
How do you treat respiratory infections in patients with CF?
Physiotherapy
Antibiotics
How can you treat patients with low weight and CF?
High calorie intake with extra supplements
NG/PEG feeding
What is Distal Intestinal Obstruction Syndrome?
Faecal obstruction in ileocaecum
Due to the contents of the distal ileum and proximal colon being thick and dehydrated
Often due to lack of pancreatic enzymes and dehydration
How do you diagnose Distal Intestinal Obstruction Syndrome?
Symptoms
RIF palpable mass (faecal)
AXR will show faecal loading at junction of small and large bowel
How can you treat Distal Intestinal Obstruction Syndrome?
Gastrographin
Lactulose
Osmotic laxatives that draw water into the bowel so rehydrates the faeces
What lifestyle advice can be given to a patient with CF?
No smoking
Avoid other CF patients
Avoid people with colds
Avoid jacuzzis as tend to have pseudomonas growing
Clean and dry nebulisers thoroughly
Avoid sources of Aspergillus fungi eg stables, compost
Have annual vaccinations
Take NaCl tablets in hot weather or when doing vigorous exercise
If you have a change in resp symptoms for more than 48 hours - take ABx
