A 27-year-old pregnant woman of Ashkenazi Jewish descent presents with her partner, a man of Cajun descent, to the nurse practitioner for a prenatal visit. Which rare inherited disorder, which progressively destroys neurons in the brain and spinal cord, should the couple be screened for?
Huntington's disease
Cystic fibrosis
Muscular dystrophy
Tay-Sachs disease
The Correct Answer is D
Choice A reason: Huntington’s disease is a neurodegenerative disorder caused by a trinucleotide repeat expansion in the HTT gene. It is inherited in an autosomal dominant pattern and typically presents in mid-adulthood. It is not commonly screened for in prenatal visits unless there is a known family history.
Choice B reason: Cystic fibrosis is a common autosomal recessive disorder affecting the lungs and pancreas. While it is included in many prenatal screening panels, it does not primarily cause progressive destruction of neurons in the brain and spinal cord. It is more associated with respiratory and gastrointestinal complications.
Choice C reason: Muscular dystrophy refers to a group of genetic disorders characterized by progressive muscle weakness. While some forms, like Duchenne muscular dystrophy, are screened for in certain populations, they do not primarily affect neurons in the brain and spinal cord.
Choice D reason: Tay-Sachs disease is a rare autosomal recessive disorder caused by a deficiency of the enzyme hexosaminidase A. It leads to progressive neurodegeneration and is especially prevalent among individuals of Ashkenazi Jewish and Cajun descent. Prenatal screening is recommended for couples from these backgrounds due to the increased carrier frequency.
Nursing Test Bank
Naxlex Comprehensive Predictor Exams
Related Questions
Correct Answer is A
Explanation
Choice A reason: Excessive iodine intake can paradoxically inhibit thyroid hormone synthesis through the Wolff-Chaikoff effect, leading to hypothyroidism. This autoregulatory mechanism protects against hyperthyroidism but can result in reduced hormone production if iodine levels remain high.
Choice B reason: While iodine intake influences thyroid function, small changes do not “reset” the thyroid system. The thyroid gland responds to iodine availability, but regulation is more complex and involves feedback from TSH and circulating thyroid hormones.
Choice C reason: Iodine deficiency typically leads to hypothyroidism, not hyperthyroidism. In rare cases, iodine deficiency may cause goiter and nodular thyroid disease, which can result in hyperthyroidism, but this is not the usual outcome.
Choice D reason: Iodine is essential for the synthesis of thyroid hormones (T3 and T4). It is directly involved in thyroid regulation, and its absence or excess can significantly impact thyroid function.
Correct Answer is D
Explanation
Choice A reason: Dual blockade with ACE inhibitors and ARBs has been studied but is not recommended due to increased risk of adverse effects such as hyperkalemia, hypotension, and acute kidney injury. It does not provide additional renal protection and may worsen outcomes.
Choice B reason: Thiazide diuretics are useful for blood pressure control, especially in volume overload, but they do not specifically address albuminuria. They are not the preferred agents for reducing proteinuria.
Choice C reason: Even though blood pressure is controlled, progressive albuminuria indicates ongoing renal damage. Doing nothing overlooks the need for targeted intervention to reduce proteinuria and preserve kidney function.
Choice D reason: Calcium channel blockers, particularly non-dihydropyridine types like verapamil or diltiazem, have shown benefit in reducing proteinuria. They can be added to ACE inhibitors to enhance renal protection without the risks associated with dual renin-angiotensin system blockade.
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