Test 3 Ch.15 Cystic Fibrosis Flashcards
The lungs of a pt w/ CF appear normal at birth, but
abnormal structures can develop quickly
CF is a
genetic inheriting disorder
Partial obstruction leads to over distention of the ___________.
alveoli
The anatomic alterations of the lungs associated with CF may result and both….
restrictive and obstructive
Excessive bronchial secretions, bronchial obstruction, and hyperinflantion of the lungs are features of CF in the…….
advance stages
The abundance of stagnant mucus in the TB tree serves as a medium for bacteria particularly: (3)
- Staphylococcus aureus
- Haemophilus influnzae
- Pseudomonas aeruginosa
Some Gram- negative bacteria are also common in CF, such as (2)
- Stenotrophomonas maltophilia
- Burkholderia cepacian complex
The major respiratory pathologic or structural changes associated w/ CF are: (6)
- Excessive production and accumulation of thick tenacious mucus in the TB tree secondary to inadequate hydration of the periciliary fluid layer
- Partial bronchial obstruction (mucus plugging)
- Hyperinflation of the alveoli
- Total bronchial obstruction (mucus plugging)
- Atelectasis
- Bronchiectasis
CF is the most common….
fatal inherited disorder in childhood
CF is an autosomal recessive gene disorder caused by
mutations in pair of genes on chromosome 7
Both parents must have the gene
mutation for child to be diagnosed
More than ______ mutations in the gene that encodes for…….
1700; Cystic fibrosis transmembrane conductance regulator (CFTR)
The abnormal expression of the CFTR results in abnormal transport of ________ and _________ ions across many types of ___________ surfaces including the lining of the bronchial airways ___________, __________, liver ducts and ________ glands.
sodium; chloride; epithelial ; intestines; pancreas; sweat
As a result of thick viscous, mucus accumulates in the lungs and mucus blocks the passageways of the pancreas prevents enzymes from the pancreas from…….
reaching the intestines
They are ___ classes of CFTR mutations that can be divided into ___ broad categories affecting either the quantity or function of the _____ protein
6;
3;
CFTR
CF is a _______ gene disorder
recessive
The child must inherited ___ copies of the defective CF gene one from…..
2
each parent
CF gene follows the
standard Mendelian pattern
According to the pattern there is a ____% chance that each child will have CF; a ___% chance that each child will be completely normal; and a ___% chance that each child will be a carrier
25%
25%
50%
When both parents carry the CF gene mutation there is a
1/4 chance the child will have CF
It is estimated that ___ million unknowing carry the gene.
10
According to the Cystic Fibrosis Foundation, CF affects ___ children and adults in the U.S and about ___ worldwide
30,000
70,000
The diagnosis of CF is based on the (3)
- clinical manifestations associated w/ CF
- family history of CF
- laboratory findings
The following two criteria must be met to diagnose CF:
- Clinical symptoms consistent w/ CF in at least one organ system
- Clinical evidence of CFTR dysfunction
What are the Clinical evidence of CFTR dysfunction to diagnose CF: (3) (test)
- Elevated sweat chloride greater than 60 mEq/L (on two occasions)
- Molecular diagnosis (genetic testing) presence of two disease, causing mutations in CFTR
- Abnormal nasal potential difference
Newborn screening for CF has been part of the newborn genetic testing protocol in all 50 states since _____
2011
Most infants w/ CF have an elevated blood level of
immunoreactive trypsin
What is another name for immunoreactive trypsin
trypsin-like immunoreactive and serum trypsin
The sweat test is sometimes called
sweat chloride test
The sweat test is the
gold standard diagnostic test for CF
The sweat test is a ________ test for the identification of ____% of pts w/ CF
reliable
98%
During the sweat test a small amount of colorless, orderless, harmless, sweat- producing called
pilocarpine
pilocarpine is applied to the pt’s
arm or leg and usually the forearm
How many times is the sweat test performed?
2 times
An electrode is attached to the chemically area and a mild _______ current is applied to stimulate ______ ___________
electric
sweat production
All pts w/ the following characteristics should undergo a sweat test to help confirm CF: (4)
- Infants w/ a positive CF newborn screening
- Infants w/ symptoms of CF
- Older siblings w/ symptoms suggestive of CF
- Members of the pt’s family w/ confirmed CF
Clinical indicators justifying the initial evaluation for CF, Pulmonary (6)
- Wheezing
- Chronic cough
- Sputum production
- Nasal polyps
- Frequent respiratory infections
- Digital clubbing
Clinical indicators justifying the initial evaluation for CF Gastrointestinal Disorders (5)
- Failure to thrive
- Foul smelling, greasy stools
- Voracious appetite
- Pancreatitis
- Meconium ileus
Clinical indicators justifying the initial evaluation for CF, Nutritional Deficits (3)
- Fat-soluble vitamin deficiency (A, D, E, K)
- Hypoproteinemia
- Hypochloremia (metabolic alkalosis)
Clinical indicators justifying the initial evaluation for CF, Infertility (Male)
- Obstructive azoospermia
Genetic test is done with a sample of the pt’s
blood, or check cells
Another name for genetic test (3)
- genotype test
- gene mutation test
- mutation analysis
The test can be performed to analyze _____ for the presence of _______ gene mutation
DNA
CFTR
Immediate results of sweat chloride test should be further investigated w/ DNA analysis using the
CFTR multimutation method
Sweat test interpretations: Infants 6 months or younger:
- Normal ( CF unlikely)
- Intermediate (possible CF)
- Abnormal (Diagnosis of CF)
- less than or equal to 29 mmol/L
- 30 to 59 mmol/L
- greater than or equal to 60
Sweat test interpretations: Infants older than 6 months, children and adults:
- Normal ( CF unlikely)
- Intermediate (possible CF)
- Abnormal (Diagnosis of CF)
- less than or equal to 39 mmol/L
- 40 to 59 mmol/L
- greater than 60 mmol/L
