- 1 in 1,000 people carry the mutant gene.
- Clinical onset of this disorder is typically in the third to fifth decade of life.
- The kidneys are enlarged and hyperechogenic, but smaller than in autosomal recessive disease.
- Renal pelvises can be visualised.
- Bladder and amniotic fluid volume are normal.
- The incidence of chromosomal abnormalities and genetic syndroms is not increased.
- Associated with hepatic, pancreatic or ovarian cysts.
- Detailed ultrasound examination.
- Genetic testing: the disease is caused by mutations in the PKD1 gene (85% of cases) on chromosome 16p13.13 and PKD2 gene (15% of cases) on chromosome 4q13.23. Prenatal diagnosis in affected families can be carried out by first-trimester chorion villous sampling.
- Ultrasound scans every 4 weeks to assess amniotic fluid volume.
- Ultrasound examination of parents’ kidneys.
- Standard obstetric care and delivery.
- In counselling affected parents with ADPKD, it should be emphasized that the prenatal demonstration of sonographically normal kidneys does not necessarily exclude the possibility of developing polycystic kidneys in adult life.
- Dialysis and transplant are the treatment options when the pathology becomes symptomatic in the third to fifth decades of life.
- Risk of recurrence: 50%.