Metabolic diseases (31 contents)
Polycystic fibrosis [cystic fibrosis] (16 contents)
Child with cystic fibrosis - immunisation
Cystic fibrosis is a chronic disease with a genetic basis. It can significantly impair a child's health.
Cystic fibrosis - risk of disease in carrier families
Cystic fibrosis is a genetically determined disease, inherited in an autosomal recessive manner. The most common mutation in our country is a deletion of one amino acid at position 508 of the CFTR...
Cystic fibrosis - newborn screening
Cystic fibrosis is a disease with an incidence of approximately 1 in 2500-3000 births. It is considered the most common autosomal recessive disease of the Caucasian race. For this reason, many...
Cystic fibrosis - genetic testing
The cause of cystic fibrosis is a mutation in the CFTR gene, which encodes a protein responsible for transporting ions across cell membranes. This gene is located on chromosome 7.
Pancreatic enzyme preparations - use in infants
Pancreatic insufficiency can occur even in an infant. The most common cause of this condition is cystic fibrosis.
