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.

单词	autosomal recessive polycystic kidney disease
释义	DictionarySeepolycystic kidney disease 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. See ARPKD See ARPKD
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