Departments of Medical Imaging and Pediatric Nephrology, University Clinics of Brussels-Erasme Hospital, 808 Route de Lennik, 1070 Brussels, Belgium.
Pediatr Radiol. 2010 Jun;40(6):939-46. doi: 10.1007/s00247-010-1599-5. Epub 2010 Apr 30.
This review highlights the changes that have occurred in the general approach to cystic renal diseases in children. For instance, genetic mutations at the level of the primary cilia are considered as the origin of many renal cystic diseases. Furthermore, these diseases are now included in the spectrum of the hepato-renal fibrocystic diseases. Imaging plays an important role as it helps to detect and characterize many of the cystic diseases based on a detailed sonographic analysis. The diagnosis can be achieved during fetal life or after birth. Hyperechoic kidneys and/or renal cysts are the main sonographic signs leading to such diagnosis. US is able to differentiate between recessive and dominant polycystic kidney diseases, hepatocyte nuclear factor 1 Beta mutation, glomerulocystic kidneys and nephronophtisis. MR imaging can, in selected cases, provide additional information including the progressive associated hepatic changes.
本文综述了儿童囊性肾病整体治疗方法的变化。例如，初级纤毛水平的基因突变被认为是许多肾囊性疾病的起源。此外，这些疾病现在被归入肝-肾纤维囊性疾病谱中。影像学发挥着重要作用，因为它可以帮助根据详细的超声分析来检测和表征许多囊性疾病。诊断可以在胎儿期或出生后进行。高回声肾脏和/或肾囊肿是导致这种诊断的主要超声征象。超声能够区分常染色体隐性和显性多囊肾病、肝细胞核因子 1β 突变、肾小球囊性病和肾痨。在某些情况下，磁共振成像可以提供额外的信息，包括进行性相关的肝脏变化。
