autosomal recessive polycystic kidney disease
autosomal recessive polycystic kidney disease
A condition characterised by major renal defects, which affects 1:20,000 live births. It is a “classic” cause of stillbirth and neonatal death, and is typically associated with liver cysts and berry aneurysms of the brain.Types
• Severe—Fatal; oligohydramnios, pulmonary hypoplasia and urologic/renal dysgenesis (Potter’s triad).
• Mild—Affects infants and children, variably accompanied by hypertension ± portal hypertension.
Management
Because it is untreatable, the usual strategy is foetal ultrasound—it can be detected by 18 weeks—and therapeutic abortion.