A 24-year-old man who has a sister with adult polycystic kidney disease asks his GP if he could be screened for the disease. What is the most appropriate screening test?
A. PKD1 gene testing
B. CT abdomen
C. Urine microscopy
D. Ultrasound abdomen
E. Anti-polycystin 1 antibodies levels
Answer: D. Ultrasound abdomen
Discussion: Ultrasound is the screening test for adult polycystic kidney disease Genetic testing is still not routinely recommended for screening family members .
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease, affecting 1 in 1,000 Caucasians. Two disease loci have been identified, PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively.
ADPKD type 1:
- 85% of cases
- Chromosome 16
- Presents with renal failure earlier
ADPKD type 2:
- 15% of cases
- Chromosome 4
The screening investigation for relatives is abdominal ultrasound:
Ultrasound diagnostic criteria (in patients with positive family history)
two cysts, unilateral or bilateral, if aged < 30 years
two cysts in both kidneys if aged 30-59 years
four cysts in both kidneys if aged > 60 years
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