D. Chromosome 16 – Explanation
ADPKD type 1 = chromosome 16 = 85% of cases
ADPKD
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 | ADPKD type 2 |
| 85% of cases | 15% of cases |
| Chromosome 16 | Chromosome 4 |
| Presents with renal failure earlier |
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
