Bardet-Biedl综合征(BBS),也被称为Laurence-Moon-Bardet-Biedl综合征,是一种独特的常染色体隐性遗传疾病,涉及多个器官系统,在欧洲和美国的发病率低于1/100,000。我们介绍了一例27岁的男性BBS患者,有高血压病史。他小时候被诊断患有BBS。他的身体检查显示脚部多指。他的肾脏超声显示左肾脏具有双收集系统,测量值1.9×6.1×3.6cm,并从左上象限延伸到左下象限。他的腹部CT显示马蹄形肾脏,右侧部分。最近已发现BBS中的肾脏异常。BBS还与各种心脏表现有关,如动脉导管未闭,心肌病,和瓣膜疾病。BBS需要多学科管理和与肾脏科医生密切随访,以降低发病率和死亡率。这种疾病的遗传和分子图谱将有助于理解先天性肾纤毛病。
Bardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome, is a unique autosomal recessive genetic disorder that involves multiple organ systems with an incidence under 1/100,000 in Europe and the USA. We present a
case of a 27-year-old male with BBS and a past medical history of hypertension. He was diagnosed with BBS when he was a child. His physical examination showed polydactyly in the feet. His renal ultrasound showed the left kidney with a double collecting system and measured 1.9 × 6.1 × 3.6 cm and extended from the left upper quadrant to the left lower quadrant. His CT of the abdomen showed a horseshoe-shaped kidney with right moiety. Renal abnormalities in BBS have been identified recently. BBS is also associated with various cardiac manifestations such as patent ductus arteriosus, cardiomyopathies, and valvular diseases. BBS requires multidisciplinary management and a close follow-up with a nephrologist to decrease morbidity and mortality. Genetic and molecular mapping of this disorder will aid the understanding of congenital renal ciliopathies.