When evaluating a patient's use of a metered-dose inhaler (MDI), the nurse notes that the patient is unable to coordinate the activation of the inhaler with her breathing.
What intervention is most appropriate at this time?

Choice A rationale

Alpha-1 antitrypsin (AAT) deficiency is an autosomal co-dominant genetic disorder, not strictly recessive. While individuals with two deficient alleles (PiZZ) are at highest risk, heterozygous carriers (PiMZ) also have an increased risk for developing COPD, particularly with environmental exposures like smoking. Therefore, stating children will be at high risk is an oversimplification and potentially inaccurate regarding the genetic transmission pattern.

Choice B rationale

While genetic counseling is an appropriate recommendation for individuals with AAT deficiency to understand inheritance patterns and reproductive risks, it is not the most immediate and direct response regarding the client's personal health implications. The client's question focuses on what the diagnosis means for *them*, not their offspring initially.

Choice C rationale

AAT deficiency significantly increases the risk for developing emphysema, a form of COPD, especially when compounded by environmental factors such as smoking. AAT normally protects lung tissue from elastase, and its deficiency leads to unchecked protease activity and subsequent lung destruction. This response directly addresses the client's personal health risk and a major modifiable factor.

Choice D rationale

This statement is inaccurate. AAT deficiency is not a recessive gene in a simple Mendelian sense where only homozygous recessive individuals are affected. It's an autosomal co-dominant condition where both alleles contribute to AAT levels, and even heterozygous carriers (PiMZ) can have lower AAT levels and increased risk for COPD, especially with smoking. Thus, it certainly impacts health.

Choice A rationale

Cystic fibrosis (CF) is a genetic disorder affecting exocrine glands, leading to thick, viscous secretions, particularly impacting the pancreas. This impairs the release of digestive enzymes, causing malabsorption of fats, proteins, and fat-soluble vitamins. Administering pancreatic enzymes with meals and snacks supplements the deficient endogenous enzymes, facilitating nutrient digestion and absorption, which is crucial for growth and development in children with CF.

Choice B rationale

Individuals with cystic fibrosis often lose excessive amounts of salt through their sweat due to a defect in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which regulates chloride and sodium transport. Restricting salt in their diet can exacerbate hyponatremia and dehydration, especially during illness or hot weather. Therefore, salt supplementation is often recommended, not restriction, to maintain electrolyte balance.

Choice C rationale

Cystic fibrosis patients, particularly children, are prone to dehydration due to increased insensible fluid losses through the respiratory tract (thick mucus) and elevated sweat electrolyte concentrations. Restricting fluid intake would further worsen dehydration, increase mucus viscosity, and impair mucociliary clearance, potentially leading to more frequent pulmonary exacerbations and overall decline in health. Adequate hydration is crucial.

Choice D rationale

Children with cystic fibrosis experience significant malabsorption, leading to malnutrition and growth failure, largely due to pancreatic enzyme insufficiency. They require a high-calorie, high-protein, and high-fat diet to compensate for malabsorption and meet their increased metabolic demands. Limiting fat and protein would further compromise their nutritional status, hindering growth and overall health.