DIAGNOSIS OF CYSTIC FIBROSIS AND DISEASE SPECIFIC HEALTH ISSUES

Abstract

Cystic fibrosis (CF) is a rare, autosomal recessive inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF can be diagnosed in the newborn period, infancy, childhood, and adulthood. The diagnostic criteria of the disease are clearly defined. However, there are cases when the results of diagnostic tests are debatable. CFTR-related metabolic syndrome or CFTR-related disorder is not the same as CF. Such patients must be monitored more intensively, and the diagnosis may be changed when new criteria appear. CF has many clinical manifestations and complications. This article reviews several CF-related specific conditions – CF-related diabetes, CF-related liver disease, bone disease in CF, distal bowel obstruction syndrome, and salt wasting syndrome – for which periodic screening is recommended, and treatment strategies are specific.