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 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.
References in periodicals archive ?
30] (2012) CLKT = combined liver-kidney transplantation; NR = not reported; PH1 = primary hyperoxaluria type 1; MMA = methylmalonic acidaemia; PKD = polycystic kidney disease; CHF = congenital hepatic fibrosis; MMA, methylmalonic acidaemia; PTLD = post-transplant lymphoproliferative disorder; ARPKD = autosomal recessive polycystic kidney disease.
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
61-67) Autosomal recessive polycystic kidney disease can present with microcysts, but typically the cysts are mainly in the medulla, with an intact cortical rim.

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