Clinical Manifestations
A gastrointestinal symptom in newborns caused by a thickened stool that blocks the small intestines shortly after birth.
Meconium ileus
A mutation in a gene on chromosome 7 affects this protein responsible for chloride ion transport across epithelial membranes.
CFTR Protein
This test measures the electrical potential across the nasal epithelium. Assessing CFTR function (protein responsible for chlorine ion transport).
Nasal Potential Difference (NPD) Test
Helps with lung function and prevents complications by making faulty CFTR proteins work better.
CFTR Modulator
In medieval European folklore, this physical trait was believed to be a sign of an incurable illness.
Salty Skin
A deficiency of these digestive enzymes causes the intestinal chyme not to be appropriately processed, leading to abdominal pain and malnutrition.
Pancreatic Enzymes
The intestinal absorption of nutrients suffers when the pancreas ducts become blocked, since digestive enzymes fail to reach their destination.
Pancreatic Insufficiency
This test measures how well the lungs work by assessing airflow, lung volume, and gas exchange.
Pulmonary Function Test
Pharmacological agents enable patients to manage their pulmonary condition by thinning respiratory mucus so it becomes simpler to remove from their lungs through coughing.
Mucolytics
This organization focuses on extending life expectancy while developing treatment possibilities for patients with a genetic disorder that produces thick mucus and targets both lungs and the pancreas.
CSF Foundation
A progressive respiratory complication due to excess mucous secretion, inflammation, chronic infection, and airway obstruction.
Lung Disease
Persistent lung obstruction and infections may result in permanent airway dilation, which doctors define as this condition.
Bronchiectasis
This test measures chloride concentration in sweat and is the gold standard for diagnosing this disorder.
Sweat Test
Treatment of thick lung mucus becomes possible through this therapy (non-drug intervention).
Chest Physiotherapy
People with this disease are advised to stay at least 6 feet apart from each other to avoid…
Cross Infection
Chloride is not reabsorbed correctly in sweat glands, leading to this characteristic change in sweat.
Increased Salt Content
This reproductive problem develops in males because of abnormal vas deferens development or blockage.
Infertility
Testing to look for any developmental, genetic, or metabolic disorders in newborns (blood test for increased immunoreactive trypsinogen (IRT)
Newborn Screening?
These respiratory medications improve breathing when inhaled through the lungs.
Bronchodilators
Such medical care combines physicians, therapy professionals, and specialists within a unified team to manage complex chronic conditions.
Multidisciplinary Care Center
The organ system most commonly affected is the lungs, with symptoms of chronic cough, wheezing, and frequent lung infections.
Respiratory System
The body produces an abnormally thick and sticky substance because of genetic mutations, which causes ducts and passageways to become obstructed.
Mucus
This test is done to identify any gene mutations
Genetic Testing
In advanced/severe cases of lung disease/respiratory failure, this surgical procedure is performed to replace the diseased lungs.
Lung Transplant
Genetic disease is inherited in this pattern (must inherit two copies of the mutated gene).
Autosomal Recessive