Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond

The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses. Autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, and the "medullary cystic disease complex" are all ciliopathies but have different phenotypes. Tuberous sclerosis complex and the associated "contiguous gene syndrome," as well as von Hippel-Lindau syndrome, are phakomatoses that can manifest with cystic renal lesions but have uniquely different extrarenal manifestations. Finally, DICER1 mutations can manifest with renal cystic lesions (typically, cystic nephromas) in patients predisposed to other malignancies in the chest, ovaries, and thyroid. Although some overlap exists in the appearance of the renal cysts associated with each of these diseases, there are clear morphologic differences (eg, cyst size, location, and complexity) that are emphasized in this review. To improve patient outcomes, it is important for the radiologist to recognize the various hereditary renal cystic diseases so that a correct diagnosis is assigned and so that the patient is adequately evaluated and followed up. ^©RSNA, 2017.