Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond

Abstract

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.

MRI in autosomal dominant polycystic kidney disease

“…In this setting, it can be challenging to differentiate ADPKD from other renal cystic conditions, especially early in its course. Renal enlargement, defined in the adult as kidney length > 14 cm or 3.5 vertebral bodies, is a characteristic feature of ADPKD and can distinguish it from most other renal cystic diseases including other ciliopathies, tuberous sclerosis complex (TSC), von Hippel‐Lindau syndrome (VHL), and lithium toxicity . The presence of a solid fatty renal lesion, eg, angiomyolipoma, can point toward tuberous sclerosis; this diagnosis is supported by characteristic dermatologic findings, chest computed tomography (CT) with lymphangioleiomyomatosis, and brain MRI to identify subependymal tubers .…”

“…Renal enlargement, defined in the adult as kidney length > 14 cm or 3.5 vertebral bodies, is a characteristic feature of ADPKD and can distinguish it from most other renal cystic diseases including other ciliopathies, tuberous sclerosis complex (TSC), von Hippel-Lindau syndrome (VHL), and lithium toxicity. 25,26 The presence of a solid fatty renal lesion, eg, angiomyolipoma, can point toward tuberous sclerosis; this diagnosis is supported by characteristic dermatologic findings, chest computed tomography (CT) with lymphangioleiomyomatosis, and brain MRI to identify subependymal tubers. 27 A diagnosis of VHL disease is suggested by retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts, renal cell carcinoma (RCC; clear cell type), pancreatic cysts and tumors, pheochromocytoma, and epididymal cystadenomas.…”

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

“…Conditions discussed here, such as Meckel‐Gruber and Bardet‐Biedl, commonly presenting with cystic kidneys and fall into the category of ciliopathies . Phakomatoses such as Tuberous Sclerosis and Von‐Hippel Landau, can also, albeit less frequently, and very rarely present with cystic kidneys …”

“…Although PKD is the most common etiology of dysplastic kidneys, several ciliopathies can mimic the phenotype of PKD, suggesting there are multiple pathways that culminate in renal cyst development . Because of differences in inheritance, natural history, and clinical management, accurately distinguishing between PKD and other ciliopathies is necessary . In this section, we will discuss the genetic basis of PKD, clinical manifestations, and perinatal/neonatal aspects of management.…”

“…[12][13][14] Because of differences in inheritance, natural history, and clinical management, accurately distinguishing between PKD and other ciliopathies is necessary. 10,11 In this section, we will discuss the genetic basis of PKD, clinical manifestations, and perinatal/neonatal aspects of management.…”