CF Clinical Presentation
An infant or child with CF presenting with persistent cough, wheezing, nasal polyps, and recurrent pneumonia is demonstrating clinical manifestations of this body system.
What is the respiratory (or pulmonary) system?
This protein functions as an ATP-gated chloride (Cl-) channel on the surface of epithelial cells.
What is CFTR?
The general range of body temperature in a 15-month-old.
What is 97.5-99.5 F?
The most common mutation responsible for CF is a deletion of phenylalanine at position 508, designated by this short name.
What is ∆F508?
This procedure involves stimulating sweat production on a small area of skin using a mild electrical current and a chemical, collecting the sweat, and analyzing its chloride concentration.
What is a sweat chloride test?
Parents often notice this distinct taste when kissing an infant with undiagnosed CF.
What is salty skin (or high sweat salt content)?
Recurrent respiratory symptoms are often due to this mechanical blockage that trap bacteria and permanently scars the bronchial walls.
What is a mucus plug (or obstruction)?
A resting heart rate above this limit generally defines tachycardia in a 15-month-old infant.
What is >130 bpm?
The overarching factor that determines whether a patient experiences a mild, moderate, or severe CF phenotype at the cellular level.
What is the amount of CFTR channel function (or chloride transport)?
This specialized test is ordered for pediatric patients with recurrent pneumonia to rule out mechanical aspiration.
What is a swallow study?
Despite having a normal or ravenous appetite, infants with untreated CF frequently present with these two physical signs of malabsorption.
What are poor weight gain and muscle wasting
Genetic testing for CF identifies mutations located on this specific chromosome location.
What is chromosome 7?
This physical finding refers to inward pulling of the soft tissues below the rib cage during inspiration, signaling respiratory distress.
What are subcostal retractions?
DAILY DOUBLE!
In airway epithelial cells, mutated CFTR fails to inhibit this sodium channel, leading to excessive Na+ and water absorption into cells.
What is ENaC (Epithelial Sodium Channel)?
These treatment types involve physically mobilizing thick mucus from the small airways so it can be coughed out.
What are Airway Clearance Therapies (ACT)?
These four fat-soluble vitamins require supplementation due to lipid malabsorption in CF.
What are Vitamins A, D, E, and K?
A false negative neonatal screen for CSF may be due to pancreatic __________ in milder mutations, which keeps Immunoreactive Trypsinogen (IRT) levels below the screening cutoff.
What is pancreative sufficiency?
The continuous, low-pitched, rattling breath sounds caused by mucus obstructing central airways.
What are rhonchi?
The CF genotype that inherits two different mutated CFTR alleles.
What is compound heterozygous?
A sweat chloride concentration equal to or greater than this value confirms a CF diagnosis.
What is 60 mmol/L?
Due to exocrine pancreatic insufficiency, infants with CF often present with this type of bulky, greasy, foul-smelling stool.
What is steatorrhea?
The CFTR mutation follows this specific pattern of genetic inheritance.
What is autosomal recessive?
These discontinuous, non-musical popping breath sounds heard at both lung bases indicate fluid or opening of collapsed alveoli.
What are bibasilar crackles?
Mutations in Classes I, II, and III are classified under this severity level because they produce virtually no functional CFTR at the cell surface.
What are severe (or minimal function) mutations?
This comprehensive molecular method reads all coding regions and intron-exon boundaries of the CFTR gene to spot rare missense or nonsense variants missed by targeted panels.
What is Sanger sequencing (or Next-Generation Sequencing / NGS)?