infantile polycystic kidney disease (autosomal recessive)

Pathology

• distal tubule & collecting duct cysts
• intraheptic bile duct abnormalities
• oligohydramnios secondary to a poor urine output
• severe pulmonary hypoplasia & secondary respiratory insufficiency result in up to 50% neonatal mortality
• in subset that survives the perinatal period, morbidity & mortality are mainly related to severe systemic hypertension, renal insufficiency, & portal hypertension due to portal-tract fibrosis

Genetics

• autosomal recessive
• defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease

Clinical manifestations

• renal failure in a newborn

Radiology

• ultrasound, enlarged & echogenic kidneys

More general terms

• polycystic kidney disease
• genetic disease of the kidney