What it is
Cystic fibrosis is an inherited condition caused by changes in the CFTR gene. CFTR normally moves salt and water across cell surfaces; when it fails, secretions become thick and sticky, mainly damaging the lungs and the pancreas.
Signs and symptoms
Elevated sweat chloride
A high level of chloride in sweat is the hallmark diagnostic finding in cystic fibrosis (values around 100 mmol/L are well above the normal range).
Recurrent bronchopulmonary infections
Thick airway mucus leads to repeated and chronic lung infections, often with bacteria such as Pseudomonas that are hard to clear, driving progressive lung damage.
Autosomal recessive inheritance
Cystic fibrosis is inherited in an autosomal recessive pattern, occurring when a child inherits a changed copy of CFTR from both parents.
Exocrine pancreatic insufficiency
The pancreas often cannot deliver its digestive enzymes (exocrine pancreatic insufficiency), so fat is poorly absorbed and stools become greasy, affecting growth and nutrition.
Meconium ileus
Meconium ileus, a blockage of the newborn bowel by thick meconium, can be the first sign of cystic fibrosis at birth.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
CFTR modulators
CFTR modulators (such as elexacaftor/tezacaftor/ivacaftor) act on the faulty CFTR protein itself and have become the cornerstone of cystic fibrosis management for eligible genotypes.
Used to help with: Cystic fibrosis.
“As CFTR modulators become the cornerstone of CF management, vigilance for hepatotoxicity is critical.”
Turn this into questions for your doctor
The hardest part is often knowing what to ask. PatientLead Health helps families turn what is on this page into the right questions for their care team.
How to read the evidence labels
Where this comes from
This guide is built from 2 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.