Ik heb het een en ander voor je opgezocht in mijn studieboeken (wel in het Engels). Als je nog specifieke vragen hebt kan ik die waarschijnlijk ook wel voor je opzoeken. Ook als je termen niet begrijpt kan ik die wel uitleggen. Volgens mij moet er ook op internet een heleboel te vinden zijn!
Underwood, General and systematic pathology
Cystic fibrosis, formerly also called mucoviscidosis or fibrocystic disease of the pancreas, is the commonest serious inherited metabolic disorder; it is however, much commoner in Causasians than in other races. The autosomal recessive abnormale gene is carried by approximately 1 in 20 Caucasians and the condition affects approximately 1 in 2000 births. The defective gene, in which numerous mutations have been identified, has been localised to chromosome 7and ultimately results in abnormal water and electrolyte transport across cell membranes.
Typically, the defective gene results in CF appearing in childhood, but it has been linked recently to chronic pancreatitis in adults.
CF transmembrande conductance regulator (CFTR)
The commonest abnormality (F508) in the CFTR gene is a deletion resulting in a missing phenylalanine molecule. The defective CFTR is unresponsive to cyclic-AMP control, and transport of chloride ions and water across epithelial cell membranes is impaired.
CF is charterised by mucous secretions of abnormally high viscosity. The abnormal mucus plugs exocrine ducts, causing parenchymal damage to the affected organs. The clinical manifestations are:
meconium ileus in neonates
failure to thrive in infancy
recurrent bronchopulmonary infections
chonic pancreatitis, sometimes accompanied by diabetes mellitus due to islet damage
malabsorption due to defective pancreatis secretions
The diagnosis can be confirmed by measuring the sodium concentration in the sweat; in affected children it is usually greater than 70 mmol/l. Pregnancies at risk can be screened by prenatal testing of chorionic villus biopsy tissue for the defective CFTR gene.
Treatment includes vigorous physiotherapy to drain the abnormal secretions from the respiratory passages, and oral replacement of pancreatis enzymes.
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