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Adult renal cystic disease: a genetic, biological, and developmental primer Katabathina VS; Kota G; Dasyam AK; Shanbhogue AK; Prasad SRRadiographics 2010[Oct]; 30 (6): 1509-23Renal cystic diseases in adults are a heterogeneous group of disorders characterized by the presence of multiple cysts in the kidneys. These diseases may be categorized as hereditary, acquired, or developmental on the basis of their pathogenesis. Hereditary conditions include autosomal dominant polycystic kidney disease, medullary cystic kidney disease, von Hippel-Lindau disease, and tuberous sclerosis. Acquired conditions include cystic kidney disease, which develops in patients with end-stage renal disease. Developmental cystic diseases of the adult kidney include localized renal cystic disease, multicystic dysplastic kidney, and medullary sponge kidney. In recent years, many molecular and cellular mechanisms involved in the pathogenesis of renal cystic diseases have been identified. Hereditary renal cystic diseases are characterized by genetic mutations that lead to defects in the structure and function of the primary cilia of renal tubular epithelial cells, abnormal proliferation of tubular epithelium, and increased fluid secretion, all of which ultimately result in the development of renal cysts. A better understanding of these pathophysiologic mechanisms is now providing the basis for the development of more targeted therapeutic drugs for some of these disorders. Cross-sectional imaging provides useful information for diagnosis, surveillance, prognostication, and evaluation of treatment response in renal cystic diseases.|*Diagnostic Imaging[MESH]|Adult[MESH]|Genetic Testing[MESH]|Humans[MESH]|Kidney Diseases, Cystic/*diagnosis/genetics/pathology/physiopathology[MESH]|Kidney Failure, Chronic/etiology[MESH]|Kidney/pathology[MESH]|Medullary Sponge Kidney/diagnosis/genetics/pathology/physiopathology[MESH]|Tuberous Sclerosis/diagnosis/genetics/pathology/physiopathology[MESH]|von Hippel-Lindau Disease/diagnosis/genetics/pathology/physiopathology[MESH] |
