Contemporary concepts and imaging findings in paediatric cystic kidney disease

Vasiliki Dermentzoglou, Virginia Grigoraki, Maria Zarifi


The purpose of this article is to review the renal cystic diseases in children with regard to classification, genetic background, antenatal and postnatal ultrasonographic appearances and evolution of findings in childhood. Numerous classifications exist, even though the prevailing one divides cystic diseases in hereditary and non-hereditary. Contemporary data are continuously published for most of the sub-categories. Genetic mutations at the level of primary cilia are considered a causative factor for many renal cystic diseases which are now included in the spectrum of ciliopathies. Genetic mapping has documented gene mutations in cystic diseases that are generally considered non-hereditary, as well as in cystic tumours. Imaging plays an important role, as it helps to detect and characterise many of the cystic diseases based primarily on detailed sonographic analysis.  Diagnosis can be achieved in many conditions during foetal life with ultrasound (US) and in selected cases with foetal magnetic resonance imaging (MRI). After birth, combined use of conventional and high-resolution US allows detailed definition of the extent and evolution of kidney manifestations. Appropriate monitoring with US seems crucial for patients’ management. In selected cases (e.g. hepatobiliary disease, cystic tumours) primarily MRI and occasionally computed tomography (CT) are valuable diagnostic tools.


paediatric cystic kidney disease; ciliopathy; phacomatosis; hereditary cystic kidney disease; non-hereditary cystic kidney disease

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