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.
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References in periodicals archive ?
High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol.
Clinical aspects of autosomal recessive polycystic kidney disease (ARPKD).
[12.] Zerres K, Mucher G, Becker J, et al Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology.
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.
This leads to different congenital bile duct disorders, such as Caroli disease and syndrome, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, congenital hepatic fibrosis, and bile duct hamartomas (BDHs, also known as von Meyenburg complexes).[1] The clinical presentation and outcome of these congenital diseases show great variation; some patients die as neonates or in early infancy (eg, perinatal, neonatal, and infantile forms of autosomal recessive polycystic kidney disease), and others (eg, BDH) present as clinically asymptomatic and usually incidental findings at laparotomy or autopsy.[1] While approximately 7% of patients with Caroli disease ultimately develop a cholangiocarcinoma, BDH has only rarely been found in association with it.

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