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Cystic Fibrosis

Cystic Fibrosis is one of the most frequent metabolic diseases in the white population. 5% of the population are healthy carriers of the gene, i.e. they have only one mutated gene in a pair of chromosomes. If a mutated gene from each the mother and the father comes together in a pair of chromosomes the person suffers from Cystic Fibrosis (autosomal recessive heritage).

The mutations result in a defect channel, which is located in the cell membrane and responsible for the transport of chloride ions. As a result, secretory glands produce a very viscous fluid with obstruction of their ducts, leading to ongoing inflammation. The illness presents with main problems in the lung, like chronic cough and ongoing pneumonias as well as problems of the digestive system and the pancreas. As a result of impaired secretion of digestive enzymes, problems in digestion and underweight occur.

The illness still cannot be cured, nevertheless prognosis improved very much throughout the last years due to further development of several therapeutic strategies e.g. physiotherapy, inhalation and drugs.