Back to leedsth.nhs.ukLeeds Fetal Medicine Unit Website
Autosomal Recessive Polycystic Kidney disease (ARPKD)
Definition |
Gene disorder resulting in bilateral, symmetric, cystic kidney disease |
| Incidence | 1:20000 pregnancies |
| Diagnosis | Ultrasound showing bilateral enlarged hyperechoic with small cysts and oligohydramnios(usually develops third trimester) |
| Gestation at diagnosis | 16 weeks onward, but enlargement may not be visible until later in the seconf trimester |
| Known chromosomal or genetic association | Single gene defect carried by both parents, mulitple different defects exist in different families |
| Further investigations | Genetic test available if defect known |
| Differential Diaganosis | Multicystic dysplastic kidney diseas Pataus syndrome Meckel-Gruber Syndrome Tuberous Sclerosis |
| Prognosis | Very poor |
| Recurrance risk | 25% |
| Research Studies | None |
Further information for clinicians please click here
Patient information leaflet please click here
Links
If you have techinical problems with this website please contact webmaster@leedsth.nhs.uk.