A nurse is discussing the underlying genetic defect in cystic fibrosis (CF) with a client. Which of the following statements accurately describes the primary genetic abnormality in CF?
"CF is caused by an extra chromosome, leading to genetic imbalance."
"In CF, there is a duplication of the CFTR gene on chromosome 7."
"CF results from a mutation in the CFTR gene, which codes for a dysfunctional chloride channel."
"CF is characterized by the absence of the CFTR gene in affected individuals."
The Correct Answer is C
A) Incorrect. CF is not caused by an extra chromosome; it is a genetic disorder resulting from mutations in specific genes.
B) Incorrect. CF is not characterized by a duplication of the CFTR gene but rather by various mutations in this gene.
C) Correct. CF is primarily caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, leading to the production of dysfunctional chloride channels.
D) Incorrect. CF is not characterized by the absence of the CFTR gene; instead, it involves various mutations in this gene.
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Naxlex Comprehensive Predictor Exams
Related Questions
Correct Answer is C
Explanation
A) Incorrect. Meconium ileus is a complication typically seen in newborns with CF, not in adults.
B) Incorrect. Failure to thrive is a concern in infants and young children with CF but not typically in adults.
C) Correct. Osteoporosis is a common complication in adults with CF due to malabsorption of calcium and vitamin D, chronic inflammation, and reduced physical activity.
D) Incorrect. Rapid growth and development are typically observed in adolescents, not as a complication but as a part of normal growth.
Correct Answer is A
Explanation
A) Correct. The sweat chloride test is commonly used for newborn screening for CF. Elevated sweat chloride levels are indicative of CF.
B) Incorrect. Chest X-rays may be used to assess lung changes in individuals with CF but are not a primary diagnostic test, especially in newborns.
C) Incorrect. Pulmonary function tests are used to evaluate lung function but are not typically performed as part of newborn screening for CF.
D) Incorrect. A complete blood count (CBC) is a general blood test and is not specific for CF diagnosis.
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