Overview
Definition
Severe pediatric form of polycystic kidney disease.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- PKHD1 gene mutation.
Clinical Symptoms
- Massively enlarged kidneys at birth
- oligohydramnios
- Potter sequence (pulmonary hypoplasia).
Clinical Approach
Diagnosis
- Prenatal ultrasound.
Management
- Supportive
- Dialysis/Transplant.
Complications
- Neonatal death (respiratory failure)
- Congenital hepatic fibrosis.