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Abdominal CT
0%
0/14
Genetic sequencing
43%
6/14
Renal biopsy
7%
1/14
Renal ultrasound
Voiding cystourethrogram
Select Answer to see Preferred Response
This patient most likely has autosomal dominant polycystic kidney disease (ADPKD) given his bilateral flank masses/pain, hypertension, and hematuria. Ultrasound is the best method to screen family members of patients with ADPKD to see if they are affected. ADPKD is an autosomal dominant condition characterized by normal kidneys at birth that subsequently develop multiple cysts bilaterally. This often leads to kidney failure requiring dialysis and transplantation after the 3rd or 4th decade of life. Patients are typically young adults with hypertension, hematuria, and worsening kidney failure. The disease occurs secondary to a mutation in PKD1 (chromosome 16) and PKD2 (chromosome 4). Other findings in ADPKD include polycystic liver disease, berry aneurysms, male infertility, mitral valve prolapse, bicuspid aortic valve, aortic dissection, abdominal hernia, and diverticulosis. Incorrect Answers: Answer 1: Abdominal CT may be a more accurate diagnostic test for characterizing this patient's ADPKD; however, it would not be used as a screening test for family members. Answer 2: Genetic sequencing is not the preferred test for ADPKD in family members when compared to ultrasound. In younger patients who may not manifest symptoms that could be seen on ultrasound or in patients where the diagnosis must be confirmed, genetic testing could be performed. Answer 3: Biopsy is the most accurate test for many kidney pathologies; however, this is an invasive and confirmatory test and would not be used for screening. Answer 5: Voiding cystourethrogram could be used to visualize the urethra and bladder; however, it would not be a screening test for ADPKD. Bullet Summary: The best screening test for family members of patients with ADPKD is a renal ultrasound.
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