autosomal recessive polycystic kidney disease
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Related to autosomal recessive polycystic kidney disease: Autosomal dominant polycystic kidney disease, ADPKD
autosomal recessive polycystic kidney diseaseA 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.
• Severe—Fatal; oligohydramnios, pulmonary hypoplasia and urologic/renal dysgenesis (Potter’s triad).
• Mild—Affects infants and children, variably accompanied by hypertension ± portal hypertension.
Because it is untreatable, the usual strategy is foetal ultrasound—it can be detected by 18 weeks—and therapeutic abortion.
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