English Version
R. Jonas

Cystic fibrosis

Cystic fibrosis

Schlüsselwörter Cystic fibrosis; ICD 10: E84.0; Mucoviscidosis
Keywords Cystic fibrosis; ICD 10: E84.0; Mucoviscidosis
Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung

Cystic fibrosis (CF) is an autosomal recessive, systemic disorder that is primarily characterized by chronic pulmonary infections, bronchiectasis, exocrine pancreatic insufficiency and elevated concentration of both sodium and chloride of the sweat.

In about 70% of cases, the disease is caused by deletion of the codon for phenylalanine at position 508 on chromosome 7, commonly referred to as DeltaF508. This leads to a defective biosynthesis of the cystic fibrosis transmembrane conductance regulator (CFTR) protein at the apical side of epithelial cells of most exocrine glands. Consequently, abnormal exchange of chloride, sodium and water generates the accumulation of viscous mucus secretions in the pancreas, small intestine, bronchial tree, biliary tract, and gonads. In addition, there may be an excessive loss of both sodium and chloride through sweat glands [1,2].

Within European derived populations, CF is generally estimated to have an annual incidence of 1 in 2,000-3,000 Caucasian newborns [3,4].This makes CF the most common inherited metabolic disease among Caucasians. Advances in treatment methods have led to increased average life expectancy of approximately 40 years. This is accompanied by a steady increase in the prevalence of these patients [5]. Undoubtedly, this epidemiological shift leads to increased contacts of CF-diseased patients at non-specialized centres [6].


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