Cystic fibrosis Flashcards
1
Q
Screening test for cystic fibrosis
A
Heel prick test
2
Q
Diagnostic test for cystic fibrosis
A
Sweat test
3
Q
What is usually the first presentation of babies with cystic fibrosis
A
Meconium ileus
meconium is extremely sticky so blocks bowel at birth
4
Q
Late childhood presentations of cystic fibrosis
A
- Frequent chest infections
- Faltering growth due to malabsorption, frequent infections
5
Q
Complications of cystic fibrosis
A
" CF related diabetes " CF related liver disease including oesophageal varices " Sinusitis " Nasal polyps " Bowel problems " Joint problems " infertility
6
Q
4 Bacteria commonly involved in chronic infection of children with CF
A
- Staph aureaus
- Hib
- Pseudomonas aeruginosa
- Burkholderia
7
Q
Which chromosome is the CFTR gene located on
A
-Chromosome 7
8
Q
Respi/ENT complications of cystic fibrosis
A
- Frequent chest infx
- Bronchiectasis
- Pneumothorax
- Sinusitis
- Nasal polyps
9
Q
HPB complications of cystic fibrosis
A
- Cirrhosis
- Portal hypertension, oesophageal varices
- Diabetes (due to pancreatic insufficiency)
10
Q
GI complications of cystic fibrosis
A
- Meconium ileus
- Intestinal obstruction
- Malabsorption
- Steatorrhoea
11
Q
Fertility complications of cystic fibrosis
A
Male infertility (absent vas deferens)
Females are fertile
