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Birth prevalence
Approximately 1 in 2500 live births in populations of Western European origin; similar prevalence in Jewish populations.
General characteristics
Inheritance is autosomal recessive.
One in 25 people is a carrier.
More than 850 cystic fibrosis (CF) gene mutations have been identified; four mutations account for about 85% of the total.1
Incidence of different mutations varies according to ethnic composition of populations.
Natural history
10–15% of newborns with CF require abdominal surgery to remove intestinal meconium plugs.
Abnormal mucus secretion leads to chronic progressive lung damage.
Intense respiratory management by inhalants, antibiotics, and physical therapy improves survival.
Intestinal absorption of dietary protein and fat is impaired by a lack of pancreatic enzymes.
Lung damage from cystic fibrosis leads to …
Footnotes
Reproduced with permission from the Journal of Medical Screening 2001;8:51.
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