Współwystępowanie celiakii u chorych na mukowiscydozę

Cystic fibrosis (CF) is the most common autosomal recessive genetic disease in Caucasians. CF is caused by a mutation in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which is located on the long arm of chromosome 7. The product of this gene - CFTR protein - is a chloride ion channel. CFTR mutations result in the lack of functional protein what leads to the accumulation of viscous mucus in many organs. Therefore, the major manifestation is related to respiratory and gastrointestinal systems. Celiac disease (CD) is an autoimmune disorder of the small intestine and is caused by an excessive immunological reaction to gluten. In classical from, CD symptoms comprise chronic diarrhoea, growth retardation, weight deficit, lack/loss of apetite, edemas, rickets, frequent respiratory infections and psychomotor retardation. However, non-classical form with milder manifestation is far more frequent. Several symptoms described above may appear both in CD and CF. Therefore, these two clinical entities were commonly mixed in the past. The introduction of new diagnostic methods, molecular gene analysis among them, facilitated making proper diagnosis. In the present paper, the basic description of CF and CD has been given and their coexistence has been presented and discussed.