Cystic Fibrosis Flashcards
1
Q
What type of genetic disorders Cystic fibrosis?
A
Autosomal recessive disorder
2
Q
What causes cystic fibrosis?
A
Mutation in the transmembrane conductance of Cl-
Increased sodium absorption, reduced Cl- secretion
3
Q
What gene is mutated in cystic fibrosis?
A
f508 long arm of chromosome 7
4
Q
What are the clinical features of cystic fibrosis?
A
Cough Wheeze Male Infertility Pancreatic insufficiency Diabetes - from teens Thickened bowl secretions Bowl obstructions
5
Q
What bacteria do cystic fibrosis patients suffer from in later stages?
A
Pseudomonas
6
Q
What is the test for cystic fibrosis?
A
Sweat test - For sodium and chloride (Cl>Na)
7
Q
What treatment is given for cystic fibrosis?
A
Physiotherapy for clearance of mucus Never suppress cough Bronchodilators Corticosteroids Creon
8
Q
What other associated symptom may occur? (GI symptom)
A
Steathorrea - presence of excess fat in faeces. Foul smelling
