CYSTIC FIBROSIS

1
CYSTIC FIBROSIS

• Olav-Trond Storrøsten, M.D.
• National center for cystic fibrosis
• Ullevaal University Hospital

2
CYSTIC FIBROSIS

• Autosomal recessive hereditary disease
• Occurs in one of 3-5000 humans in Scandinavian
  countries
• 271 patients in Norway, more than 60 beeing
  older than 18 years of age
• One in 35 beeing carriers of the CF gene

3
GENETICS
4
4
5
5
6
6
7
7
8
8
9
Proposed Structure for Cystic Fibrosis
Transmembrane Conductance Regulator (CFTR)
9
10
Structure and function of CFTR
11
Salt Transport by Sweat-Gland Duct
11
12
Pilocarpin-iontophoresis
13
Sweat test

• Chloride more than 60 mmol/l
• lt 3 mo 30 mmol/l highly suggestive
• Sodium and chloride within 15 mmol/l
• Sodium/chloride rato lt 1.0
• Chloride gt 160 mmol/l physiologically impossible

14
14
15
Gene Replacement Therapy
15
16
Ion Channel Modulators
CFTR
16
17
17
18
Under the Microscope CF Lung Disease
Normal Airway
CF Airway
18
19
Incidence of Major Airway Pathogens by Patient Age
20
One-year period prevalence