The aim of this EPOS is to discuss the pathogenesis of autosomal-dominant polycistic kidney disease (ADPKD), the various diagnostic challenge surrounding its evaluation and to review the different imaging modalities and their indications.

ADPKD (autosomal dominant polycystic kidney disease) is the most common renal genetic disorder, affecting over 12 million people worldwide. It is characterized by progressive cystic dilatation of renal tubules causing architectural distortion and increase in kidney size leading to decline in renal function often culminating in end stage renal disease [1].

The disorder is passed down in autosomal dominant pattern with varied expression, albeit nearly always with 100% penetrance of mutated genes of PKD1 or PKD2. Mutations of PKD1 gene occurs in 85% of patients, while mutation of PKD2 gene occurs in 15% of patients. Affected individuals have a 50% risk of passing it on to their offspring; althoung almost one in four cases present with no known family history. Clinical manifestations of the disease caused by the mutation of either of the genes is similar, however PKD1 mutation is...

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Radiologists play an important role in diagnosing and in management guidance in ADPKD. US is the modality of choice for screening in patients at high risk, CT is particularly useful in the evaluation of renal and extra-renal complications, while MRI is emerging as the most accurate method pratically applicable to imaging requests, in particular volumetric MRI is useful in the assesment of disease progression and the monitoring of treatment efficacy.