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 ?
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience and fetal morphology.
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification.
Zerres K, Mucher G, Becker J, et al Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology.
Morbidity from congenital hepatic fibrosis after renal transplantation for autosomal recessive polycystic kidney disease.
Molecular genetics of autosomal recessive polycystic kidney disease.
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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