Dippell J, Varlam D E
Clementine Children's Hospital, Frankfurt/M., Germany.
Pediatr Nephrol. 1998 Sep;12(7):559-63. doi: 10.1007/s004670050504.
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by postaxial hexadactyly, obesity, mental retardation, pigmented retinopathy, hypogonadism, and renal disease. Morphological changes are present in all areas of the kidney, the renal medulla being the most frequently affected site. Cystic and dysplastic changes are prevalent. Seven children from five families were followed from birth through their 5th birthday. Serial renal sonography revealed a number of characteristic features. Bilateral renal enlargement and increased parenchymal echogenicity were present at birth. The usual corticomedullary differentiation was absent. Pyramids were either not seen or deformed. With high-resolution ultrasonography, small cysts were detected at the corticomedullary junction. After the 3rd month of life, there was a striking inversion of normal echogenicity, the inner medulla became more echogenic and was demarcated from the less-echogenic cortex. After 12 months, the kidney size regressed significantly. Fetal lobulation persisted in some patients. In conclusion, ultrasonography is a useful tool to evaluate the extent of renal lesions, but more importantly to differentiate bilateral polycystic kidney diseases in the newborn period.
巴德-比德尔综合征是一种常染色体隐性疾病，其特征为轴后多指畸形、肥胖、智力发育迟缓、色素性视网膜病变、性腺功能减退和肾脏疾病。肾脏的所有区域均出现形态学改变，其中肾髓质是最常受累的部位。囊性和发育异常改变较为普遍。对来自五个家庭的七名儿童从出生到五岁进行了随访。系列肾脏超声检查显示了一些特征性表现。出生时即出现双侧肾脏增大和实质回声增强。正常的皮质髓质分界消失。肾锥体要么未见，要么变形。使用高分辨率超声检查，在皮质髓质交界处检测到小囊肿。出生后第三个月后，正常回声出现明显反转，肾内髓质回声增强，并与回声较弱的皮质区分开来。12个月后，肾脏大小显著缩小。一些患者的胎儿分叶持续存在。总之，超声检查是评估肾脏病变程度的有用工具，但更重要的是可用于鉴别新生儿期的双侧多囊肾病。
