Clinical Manifestations
A respiratory symptom of this disease is characterized by a persistent cough that produces thick and sticky mucus.
This disease results from a mutation causing degradation of a chloride channel, leading to dysregulated epithelial ion transport and dehydration of airway surface liquid
What is the result of this disease in pathophysiological terms?
This test measures the amount of chloride in sweat and is the gold standard for confirming this condition.
What is the sweat chloride test?
These medications help loosen thick mucus in the lungs to improve breathing.
What are mucolytics?
This disease causes difficulty absorbing nutrients in children.
What is poor growth or failure to thrive?
A digestive manifestation of this disease causes foul smelling and greasy stool due to poor absorption of fats.
What is steatorrhea?
Loss of inhibition of ENaC in this condition increases sodium reabsorption, reducing water content in mucus and impairing mucociliary clearance
What is dehydration of airway surface liquid due to increased ENaC activity?
This genetic test identifies mutations in the CFTR gene responsible for this disease.
What is genetic testing?
This therapy involves clapping or vibrating the chest to help clear mucus.
What is chest physiotherapy?
Frequent lung infections in this disease are caused by the build up of thick mucus in these structures of the respiratory system.
What is the airways or lungs?
In newborns with this disease, a condition can occur when thick stool blocks the intestines.
What is meconium ileus?
In this disorder, defective chloride secretion and increased sodium absorption across epithelial cells produce thick, viscous secretions in multiple organ systems
What is abnormal ion transport across epithelial cells leading to thick mucus?
Newborn screening often detects this disease by measuring elevated levels of this pancreatic enzyme precursor.
What is immunoreactive trypsinogen (IRT)?
These medications are used to treat chronic lung infections caused by bacteria
What are antibiotics?
This disease can often be associated with clubbed fingers
What is clubbed fingers due to hypoxia
When kissing a child with this disease, parents may an unusual symptom due to an increase of salt in sweat.
What is salty tasting skin?
This disease is characterized by a cycle of airway obstruction, chronic infection, and inflammation driven by dehydrated mucus.
What is a self-perpetuating cycle of mucus obstruction, infection, and inflammation?
This imaging technique is commonly used to assess lung damage such as bronchiectasis in this condition.
What is a chest CT scan?
This class of drugs targets the defective CFTR protein directly to improve its function.
What are CFTR modulators?
This disorder involves thickened secretions that can impair normal organ function across multiple systems
What is thickened secretions systemically
Repeated lung infections and inflammation causes the fingertips and toes to become widened and rounded.
What is clubbing of the fingers and toes?
This genetic condition involves malfunction of the CFTR protein, leading to thick mucus due to impaired ion and water transport.
What is a CFTR protein dysfunction causing impaired ion transport and thick mucus?
This diagnostic finding involves thick, sticky mucus leading to chronic lung infections and is often confirmed alongside genetic testing.
What is abnormal mucus accumulation in the lungs?
This advanced treatment option is considered for severe lung damage when other therapies fail.
What is a lung transplant?
This type of inheritance pattern means a person must inherit two mutated copies of a gene to express the disease.
What is autosomal recessive inheritance?