Page 173 - Color Atlas Of Pathophysiology (S Silbernagl Et Al, Thieme 2000)

A. Causes and Consequences of Cystic Fibrosis

Autosomal recessive gene defect
on chromosome 7

Regulatory domain:
regulation by
cAMP-dependent
NBD 2
proteinkinase A
CFTR
1
1 PKA cAMP
1480
Fibrosis
2
NBD 1
Nucleotide-
binding domain 1: Cystic
ATP/ADP binding
Mutation ∆F508 or Mutation G551D
ATP
550 Gly 552 Plate 6.15
507 Phe 509
550 H 2 O
507 509 Asp 552
OH – H + H +
3
–
HCO 3 Na +
Cystic fibrosis Cl – CO 2
Fluid secretion PKA cAMP
abnormal in: K +
Pancreas, CFTR ATP
gonads, 4
liver, intestine, Lumen Epithelial cell (pancreatic duct)
gallbladder,
sweat glands,
bronchii, etc.
Bronchial secretion
too thick

Infection
Chronic
pancreatitis

Bronchiectasis,
Malabsorption Meconium ileus pneumonia, etc. 163
Photo from: Thurn P. et al. Einführung in die radiologische Diagnostik. 10th ed. Stuttgart: Thieme; 1998
Silbernagl/Lang, Color Atlas of Pathophysiology © 2000 Thieme
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