Test 3 Flashcards
Cystic firbrosis leads the excessive production and accumulation of thick, tenacious mucus in the tracheobronchial tree secondary to ____________________________.
Inadequate hydration of the periciliary fluid layer (sol layer)
Partial obstruction leads to what?
Over distention of the alveoli
Complete obstruction leads to ____________________.
Patchy areas of atelectasis and in some cases bronchiectasis
What are the predominant features of CF in the advanced stages?
- Excessive bronchial secretions
- Bronchial obstruction
- Hyperinflation of the lungs
What are the major respiratory pathologic or structural changes associated with CF? (6)
- Excessive production and accumulation of thick, tenacious mucus in the tracheobronchial tree secondary to inadequate hydration of the periciliary layer.
- Partial bronchial obstruction (mucus plugging)
- Hyperinflation of the alveoli
- Total bronchial obstruction (mucus plugging)
- Atelectasis
- Bronchiectasis
What is the most common fatal inherited disorder in childhood?
Cystic Fibrosis
What type of gene disorder is CF?
Autosomal recessive gene disorder caused by mutations in a pair of genes located in Chromosome 7
Under normal conditions, every cell in the body has _______ chromosomes.
46 chromosomes - 23 pairs
More than _________ different mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator have been described.
1700
The most common genetic defect linked to CF involves the absence of three base pairs in ___________ that codes for phenylalanine on chromosome 7 (band q31.2)
Codon 508 (ΔF508)
The absence of three base pairs in codon 508 (ΔF508) accounts for ___________ of patients with CF tested.
70-75%
The abnormal expression of the CFTR results in what?
Abnormal transport of sodium and chloride ions across many types of epithelial surfaces, including those lining the bronchial airways, intestines, pancreas, liver ducts, and sweat glands.
The CFTR mutations that is classified a gating defect means ________________.
The channel does not open
The CFTR mutations that is classified as conductance defect means
________________.
The channel is open, but chloride does not move effectively.
Because CF is a recessive gene disorder, the child must inherit _______ copies of the defective gene disorder.
2 copies, one from each parent to have the disease
If both parents carry the CF gene, the possibility of their children having CF follows the ________________.
Standard Mendelian Pattern
When both parents carry a CF gene mutation, there is a _____ in four chance that the chid will have CF.
One.
1/4
It is estimated that how many Americans are unknowing, symptomless carriers of the mutant CF gene?
10 million
According to the CF Foundation, CF affects about how many children and adults in the US and how many worldwide?
US - 30,000
Worldwide - 70,000
About ______ new cases of CF are diagnosed each year in the US.
1000
More than ___% of patients are diagnosed with CF by newborn screening.
90
More than ____% of the patient population with CF are 18 years or older.
50
What is the median age of survival for individuals with CF?
In the late 30s, but many patients with CF live into their 40s and beyond.
CF occurs most often in what race?
Caucasians (1:3000)