Cystic fibrosis


Cystic fibrosis (mucoviscidosis) is the most common type of genetic metabolic disease. It leads to the build-up of viscous, high-protein secretion in the body’s glands. This primarily affects the lungs, digestive tract and genitals. There is no causal treatment available for cystic fibrosis at present, but the life expectancy of those afflicted continues to rise thanks to improved treatment.

Cystic fibrosis has been included in the screening of newborn babies in Austria since 1998.

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    Cause & Symptoms
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    Diagnosis & Therapy
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    Everyday life

Cause

Cystic fibrosis is caused by a gene defect. (CFTR gene: cystic fibrosis transmembrane regulator). This gene is responsible for a protein that regulates the transportation of salt and water into and out of cells. The gene defect leads to the build-up of viscous, high-protein mucus in the glands and very salty sweat.

Hereditary

Statistically speaking, one of twenty people carry the defective gene responsible for causing cystic fibrosis without falling victim to it themselves. Only in case where both parents carry the defective gene is it possible for the disease to develop in their children.

Symptoms

The symptoms of cystic fibrosis can vary widely depending on how the gene has changed. 
The main symptoms affect the lungs and digestive system (in particular the pancreas).

Respiratory organs

  • The viscous mucus causes chronic coughing and regular infections of the respiratory organs with germs such as staphylococcus aureus and pseudomonas aeruginosa. Chronic infections may result in the development of pulmonary insufficiency in the course of the disease, causing shortness of breath and oxygen deficiency.
  • Sinusitis is an infection that often occurs in cases of cystic fibrosis. The growth of polyps in the paranasal sinuses may lead to nasal obstruction and an impaired sense of taste.

Digestive organs

  • The pancreas does not produce enough enzymes to break down food, having a significant impact on the body’s ability to absorb fat and protein. This leads to problems with digestion (e.g. diarrhea, fatty stools) and to malnutrition.
  • Children do not grow properly and do not gain sufficient weight.
  • In rare cases, newborns may be afflicted by intestinal blockage (meconium ileus).
  • Diabetes and liver dysfunction (such as jaundice) may also occur as a result of cystic fibrosis.

Other symptoms

  • The sweat of people suffering from cystic fibrosis has a particularly high salt content. Profuse sweating can lead to the significant loss of electrolytes.
  • Cystic fibrosis also affects the reproductive organs.
  • During the more advanced stages of cystic fibrosis, swollen round fingertips (so-called drumstick fingers) may develop as a result of the low blood oxygen levels.
  • Osteoporosis may occur during the early years of adulthood.