Cystic Fibrosis Flashcards
What type of inheritance is the Cystic fibrosis gene?
Autosomal recessive
Where is the cystic fibrosis gene located?
Lies on long arm of chromosome 7
What is the gene called?
CFTR
What does CFTR stand for?
Cystic fibrosis transmembrane conducted regulator?
What is the most common type of mutations in northern europeans?
phe508del(traingle) F508
What are the functions of the CTFR genes?
-Active transport channel for chloride
What does the movement of chloride do for the body?
-Regulates liquid volume on epithelial surface
(Reduced choride efflux)
(Increased sodium influx)
What are the common presentations for antenatal patients?
- CVS (Chorionic villus sampling)
- Echogenic Bowel (brighter in ultrasound)
What are some less common presentations for antenatal patients?
-Performed meconium ileus
What are the common presentations for infants and young children?
- Recurrent chest infections
- Failure to thrive
What are the uncommon presentations for infants and children?
Rectal prolapse Pseudo-Bartter`s syndrome Anaemia Oedema Hypoproteinaemia
What are the common presentations for older children and adults?
Recurrent chest infections
Nasal polyps and sinusitis
Male infertility
What are the uncommon presentations for older children and patients?
Acute pancreatitis
liver disease
Pseudo-Bartter`s (Hypokalaemia metabolic alkalyosis)
Atypical mycobacteria
What neonatal screening is available for CF?
- Newborn bloodspot day 5 (Guthrie test)
- Initial screen immunoreactive trypsinogen
What is trypsinogen?
an inactive substance secreted by the pancreas, from which the digestive enzyme trypsin is formed in the duodenum.
What are the two cardinal features of CF?
- Pancreatic Insufficiency
- Bronchopulmonary infection
What are the feature of abnormal stools?
- Pale or Orange
- Very Offensive
- Greasy or oily
How does one treat pancreatic insufficiency?
- Enteric coatsed enzyme pellets
- High energy diet
- Fat soluble vitamin and mineral supplements
- H2 antagonist or proton pump inhibitors
Describe the effects of recurrent broncho pulmonary infection?
- Pneumonitis
- Bronchiectisis
- Scarring
- Abscesses
What are the common organisms that infect during CF?
- Staphylococcus aureus
- Haemophilus influenzae
Pseudomonas aeruginosa later on in life
What are some uncommon organisms that infect with CF?
- Burkholderia cepacia
- Stenotrophomonas maltophilia
- Alcaligenes xylosoxidans
- Atypical mycobacteria e.g. M abscessus
Describe the effects of CF on the GI tract?
- Dysmotility
- Co-existent disease
Describe the features of dysmotility?
- Meconium ileus
- Gastro-oesophageal reflux
- Distal intestinal obstruction
- Constipation/rectal prolapse
What are the manifestations of CF?
- Upper airway polyps and sinusitis
- Diabetes
- Bones
- Heat exhaustion
- Bilateral abscence of vas deferens
- Vaginal candidasis; Stress incontinence
