A 42-year-old woman comes to the office for evaluation of elevated blood pressure. She says, "I checked my blood pressure on a machine at the pharmacy, and it was 160/90 mm Hg. The pharmacist said I should see a doctor." The patient has no history of hypertension and has had no chest pain, headache, or focal weakness or numbness. She notes occasional episodes of pain in her flanks, which she ascribes to muscle tension. The patient has had several urinary tract infections over the course of her life but has no chronic medical problems and takes no medication regularly. She does not use tobacco, alcohol, or illicit drugs. The patient is married and has a son. Her mother has hypertension, her father died at an early age in a motor vehicle collision, and her uncle has renal failure and receives dialysis. Blood pressure is 156/94 mm Hg on the right arm and 152/96 mm Hg on the left arm. Pulse is 80/min and respirations are 16/min. Jugular venous pressure is within normal limits. Breath sounds are normal bilaterally with no crackles. Point of maximal impulse is displaced to the left and down. Heart sounds are normal with no murmur or gallops. The abdomen is soft with bilateral flank fullness. Bowel sounds are active. Laboratory results are as follows. Urinalysis shows dysmorphic erythrocytes and mild proteinuria. ECG shows left ventricular hypertrophy with nonspecific ST-T wave changes. After learning about the disease, the patient becomes worried that her 19-year-old son may also have the same condition. Which of the following is the most appropriate response to the patient?

Question

A 42-year-old woman comes to the office for evaluation of elevated blood pressure.  She says, "I checked my blood pressure on a machine at the pharmacy, and it was 160/90 mm Hg.  The pharmacist said I should see a doctor."  The patient has no history of hypertension and has had no chest pain, headache, or focal weakness or numbness.  She notes occasional episodes of pain in her flanks, which she ascribes to muscle tension.  The patient has had several urinary tract infections over the course of her life but has no chronic medical problems and takes no medication regularly.  She does not use tobacco, alcohol, or illicit drugs.  The patient is married and has a son.  Her mother has hypertension, her father died at an early age in a motor vehicle collision, and her uncle has renal failure and receives dialysis.  Blood pressure is 156/94 mm Hg on the right arm and 152/96 mm Hg on the left arm.  Pulse is 80/min and respirations are 16/min.  Jugular venous pressure is within normal limits.  Breath sounds are normal bilaterally with no crackles.  Point of maximal impulse is displaced to the left and down.  Heart sounds are normal with no murmur or gallops.  The abdomen is soft with bilateral flank fullness.  Bowel sounds are active.  Laboratory results are as follows.  Urinalysis shows dysmorphic erythrocytes and mild proteinuria.  ECG shows left ventricular hypertrophy with nonspecific ST-T wave changes. After learning about the disease, the patient becomes worried that her 19-year-old son may also have the same condition.  Which of the following is the most appropriate response to the patient?

Quizplus · Accepted Answer

Explanation: Patients age ≥18 with a family history of autosomal dominant polycystic kidney disease (ADPKD) should be screened for the disorder using renal ultrasound. Early recognition of ADPKD aids in family planning and the management of potential disease complications (eg, hypertension, renal insufficiency). Counseling is performed as a diagnosis of ADPKD often can result in psychological consequences, have an impact on career decisions, and potentially affect ability to obtain life insurance. (Choice A) Because ADPKD is autosomal dominant, offspring of a single affected parent have a 50% chance of getting the disorder. If both parents are affected, the child has a 75% chance of getting the disease. (Choice B) Renal insufficiency is usually a late manifestation of ADPKD. A diagnosis prior to the development of renal insufficiency allows for the initiation of targeted interventions (eg, blood pressure control) that may reduce risk of renal decline. (Choice C) Although blood pressure should be monitored, the development of hypertension is not diagnostic of ADPKD. Renal ultrasonography is the best screening test. (Choice E) Genetic testing is more expensive than ultrasound and is typically reserved for patients who have equivocal ultrasound results. Educational objective: Patients age >18 with a family history of autosomal dominant polycystic kidney disease should be screened for the disorder using renal ultrasound. Counseling should be done prior to screening as positive testing can have psychological, insurability, and employment ramifications.

A 42-Year-Old Woman Comes to the Office for Evaluation of Elevated