CF Flashcards
Initially, the patient has bronchial gland ______ and metaplasia of _____. This condition leads to the excessive production and accumulation of _______ in the tracheobronchial tree secondary to inadequate hydration of the periciliary fluid layer (sol layer).
hypertrophy, goblet cells, thick, tenacious mucus
Partial obstruction leads to ______, and complete obstruction leads to patchy areas of _____ and, in some cases, _____
overdistension of the alveoli, atelectasis, bronchiectasis
______, _______, _______ are the predominant features of CF in the advanced stages.
excessive bronchial secretions, bronchial obstruction, and hyperinflation of the lungs
The abundance of stagnant mucus in the tracheobronchial tree also serves as an excellent culture medium for bacteria, particularly ______, _________, _________
Staphylococcus aureus, Haemophilus influenzae, and Pseudomonas aeruginosa.
Some gram-negative bacteria are also commonly associated with CF, such as _______ and ________
Stenotrophomonas maltophilia, Burkholderia cepacia complex
The major respiratory pathologic or structural changes associated with CF
- Excessive production and accumulation of thick, tenacious mucus in the tracheobronchial tree secondary to inadequate hydration of the periciliary fluid layer.
- Partial bronchial obstruction (mucous plugging)
- Hyperinflation of the alveoli
- Total bronchial obstruction (mucous plugging)
- Atelectasis
- Bronchiectasis
CF is an ________ caused by mutations in a pair of genes located on _______
autosomal recessive gene disorder, chromosome 7
Over 2400 different mutations in the gene that encodes for the_____________ (CFTR) have been described.
cystic fibrosis transmembrane conductance regulator
One genetic defect linked to CF involves the absence of three base pairs in _________that codes for phenylalanine on chromosome 7 (band q31.2). Because of the loss of these three base pairs, the CFTR protein becomes dysfunctional.
codon 508 (ΔF508)
The abnormal expression of the CFTR results in abnormal transport of _______and _________across many types of epithelial surfaces, including those lining the bronchial airways, intestines, pancreas, liver ducts, and sweat glands.
sodium and chloride ions
As a result, _______ accumulates in the lungs, and
mucus blocks the passageways of the pancreas, preventing enzymes from the pancreas from reaching the intestines.
thick, viscous mucus
Some infants with CF are born with a blockage of the intestine—a condition called __________. Most men with CF are ______ as a result of a missing or an underdeveloped vas deferens. Fertility is decreased in women with CF secondary to thick
cervical mucus.
meconium ileus, infertile (azospermic)
Because CF is a recessive gene disorder, the child must inherit
____ copies of the _____ CF gene—one from each parent
(cystic fibrosis carriers)—to have the disease.
two, defective
The following two criteria must be met to diagnose CF:
- Clinical symptoms consistent with CF in at least one
organ system—for example, pulmonary system, sinus
disease, pancreatic disease, meconium ileus, biliary disease,
and male infertility. - Clinical evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction—any of the following:
• Elevated sweat chloride >60 mEq/L (on two occasions)
• Molecular diagnosis (Genetic Testing). Presence of
two disease-causing mutations in CFTR
• Abnormal nasal potential difference
Most infants with CF have an elevated blood level of _________, which can be measured by ________ or by an enzyme-linked immunoassay.
immunoreactive trypsin (also called trypsin-like immunoreactivity and serum trypsin), radioimmunoassay
The diagnosis of CF is established by a _______
positive sweat test and/or genetic analysis for CF mutations
