Wojciech Cichy

Mukowiscydoza - choroba o wielu maskach

Cystic Fibrosis - a disease with many faces
Cystic Fibrosis (CF) is the most common hereditary disease among Caucasians caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). There are over 1,600 mutations of CFTR that can produce CF. CF is considered an autosomal recessive disease with chronic and progressive course. The CF patients present the broad range of clinical symptoms. In Poland newborn screening programs assess the disease prevalence about 1 in 5000 children.
The typical symptoms come from the respiratory system (recurrent and chronic bronchopulmonary infections leading to lung failure) and gastrointestinal tract (malabsorption followed by malnutrition due to pancreatic exocrine insufficiency, gastroesophageal reflux disease, meconium ileus and its equivalents, hepatic cirrhosis). A multitude of other symptoms, including sinus infections, sinonasal polyps, poor growth, diarrhea, infertility, osteoporosis and hypochloremic alcalosis result from the effects of CF on other parts of the body.
Exocrine pancreatic insufficiency occurs in the majority (85% to 90%) of patients with CF. It is presented with steatorrhea. Its basic treatment by suplementation of missing digestive enzymes allows the duodenum to properly absorb nutrients and vitamins. With the time secondary endocrine pancreatic insufficiency develops (cystic fibrosis-related diabetes).
Cystic fibrosis is diagnosed based on European and national criteria of scientific associations.
The CF symptomatic treatment is complex and multidisciplinary: prophylaxis and treatment of bronchopulmonary disease (inhalations, physiotherapy and temporary antibiotics), dietetic treatment (hyper energetic, fat and protein rich diet) with the use of either nocturnal enteral nutrition by nosogastric tube, PEG or the introduction of total parenteral nutrition. Gene therapy as a casual treatment is in the phase of clinical trials.
Keywords: cystic fibrosis, diagnostic criteria, modern pharmacotherapy, screening program.