In cystic fibrosis or. cystic fibrosis (CF) (synonyms: CF (fibrosis cystica); Clarke-Hadfield syndrome (cystic fibrosis); cystic fibrosis; familial congenital cystic fibrosis; Fanconi-Andersen syndrome (cystic fibrosis); fibrocystic disease; fibrocystic lung disease; Fibrocystic pancreatic disease; Landsteiner-Fanconi-Andersen syndrome (cystic fibrosis); meconium ileus syndrome; cystic fibrosis; neonatal jaundice in cystic fibrosis; cystic pancreatic fibrosis; cystic fibrosis (CF); cystic fibrosis; ICD-10-GM E84. -: Cystic fibrosis) is a genetic disease characterized by the production of secretions in various organs that need to be tamed.
Cystic fibrosis (CF) is inherited in an autosomal recessive manner and is the second most common inborn error of metabolism in the white population of Europe and the USA after hemochromatosis. CF is caused by a mutation in both alleles of the CFTR gene (“cystic fibrosis transmembrane conductance regulator gene”) on the long arm of chromosome 7 (gene locus 7q3.1).
It is a multisystem disease and manifests predominantly in the lungs and gastrointestinal tract. In most patients, the first symptoms of cystic fibrosis are noticed in early childhood. In up to 20% within the first 24 hours of life. The incidence (frequency of new cases) is 1 in 3,300-4,800 newborns in the Western world, and as high as 1 in 500 in Scotland. People of African descent have a risk of 1 in 17,000 and people of Asian descent 1 in 90,000. In Germany, approximately 8,000 people have cystic fibrosis. Approximately 4% of the German population are healthy gene carriers (plant carriers) who can pass on the mutated gene.
Course and prognosis: Meconium ileus (obstruction of a section of the intestine by a thickened first stool, called meconium) occurs in about 20 % of newborns; in the further course, failure to thrive is noticed in addition to chronic cough. In childhood, chronic rhinosinusitis (simultaneous inflammation of the nasal mucosa (“rhinitis”) and the mucosa of the paranasal sinuses (“sinusitis“)) is common (61%). The majority of cystic fibrosis patients develop multi-organ disease. Lung involvement (approx. 90 %) is the main cause of morbidity (frequency of illness) and mortality (number of deaths in a given period, relative to the number of the population concerned).The therapy of cystic fibrosis is based on the three pillars of nutritional medicine, sports medicine and physiotherapy, as well as pharmacotherapy.In Germany, approximately 50 % of those affected now reach adulthood and just under 20 % live beyond the age of 30 years. The mean age of survival in Germany is 47.5 years (confidence interval: 44.8 to 49.7 years). The disease is not curable.
Comorbidities (concomitant diseases): the most common comorbidity of cystic fibrosis is diabetes mellitus IIIc, which manifests in 20% of adolescents and in 50% of adults.
