Autosomal recessive polycystic kidney disease (ARPKD)
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A prenatal ultrasound at 20 weeks reveals bilaterally enlarged, echogenic kidneys and oligohydramnios. After birth, the infant has Potter sequence and congenital hepatic fibrosis.
AR; PKHD1 (fibrocystin/polyductin)
- Renal: Enlarged, echogenic kidneys (collecting duct ectasia), oligohydramnios (severe)
- Hepatic: Congenital hepatic fibrosis (all patients) → portal hypertension
- Severe: neonatal death from pulmonary hypoplasia
- Milder: presents in childhood with hypertension, hepatic fibrosis
- Imaging (prenatal or postnatal ultrasound) shows bilaterally enlarged, echogenic kidneys with poor corticomedullary differentiation, often with oligohydramnios
- Congenital hepatic fibrosis with biliary ductal plate malformation supports the diagnosis
- PKHD1 molecular testing confirms the diagnosis and enables carrier and prenatal testing
- Respiratory support for neonatal pulmonary hypoplasia; antihypertensive therapy for systemic hypertension
- Renal replacement therapy (dialysis, transplant) for progressive kidney failure
- Surveillance for portal hypertension complications (varices, hypersplenism, cholangitis); combined liver-kidney transplant in selected cases
- Variable; those surviving neonatal period may have better outcomes