The concentration of calprotectin in the stools of children with diagnosed cystic fibrosis.

Introduction: Calprotectin is a protein that plays a regulatory role in inflammatory reactions as an antibacterial and antiproliferative factor.

Aim: To assess the concentration of calprotectin in the stools of patients with diagnosed cystic fibrosis.

Material And Methods: Forty-one patients were included in the study, 24 boys and 17 girls, aged from 7 weeks to 18 years.

Does the mutation of the SERPINA1 gene contribute to liver damage and cholestasis in patients with diagnosed cystic fibrosis? preliminary study.

Unlabelled: Mutation of the SERPINA1 gene is present in about 2% of patients with cystic fibrosis but is more common and accounts for about 5% in patients with cystic fibrosis and co-existing liver lesions. The SERPINA1 gene is responsible for the synthesis of a serine protease inhibitor. The protein related with this gene is accumulated within the endoplasmic reticulum of hepatocytes causing their damage, inflammation and cirrhosis.

Diagnostic problems in cystic fibrosis - specific characteristics of a group of infants and young children diagnosed positive through neonatal screening, in whom cystic fibrosis had not been diagnosed.

Introduction: Neonatal cystic fibrosis screening contributes to an early diagnosis of cystic fibrosis and to implementing appropriate therapeutic management. Long-standing screening tests have made it possible to identify a group of newborns in whom the diagnosis was ambiguous and required further specialised tests.

Aim: The aim is to present cases of patients with a positive result of newborn screening for cystic fibrosis who were found to be carriers of the mutation in both alleles, however the lack of clinical symptoms and correct sweat testing values did not lead doctors to diagnosing cystic fibrosis and by the same token implementing the treatment.