Department of Radiology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA.
Radiographics. 2010 Oct;30(6):1509-23. doi: 10.1148/rg.306105513.
Renal 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.
成人肾脏囊性疾病是一组以肾脏内存在多个囊肿为特征的异质性疾病。这些疾病可以根据其发病机制分为遗传性、获得性或发育性。遗传性疾病包括常染色体显性多囊肾病、髓质囊性肾病、希佩尔-林道病和结节性硬化症。获得性疾病包括发生在终末期肾病患者中的囊性肾病。成人肾脏的发育性囊性疾病包括局限性肾脏囊性疾病、多囊性发育不良肾脏和髓质海绵肾。近年来，许多涉及肾脏囊性疾病发病机制的分子和细胞机制已被确定。遗传性肾脏囊性疾病的特征是遗传突变导致肾脏管状上皮细胞初级纤毛的结构和功能缺陷、管状上皮异常增殖和液体分泌增加，所有这些最终导致肾脏囊肿的发展。对这些病理生理机制的更好理解现在为开发这些疾病的一些更有针对性的治疗药物提供了基础。横断面成像为肾脏囊性疾病的诊断、监测、预后和治疗反应评估提供了有用的信息。
