Waleed Madeeha Subhan, Varughese Ashok Abraham, Amba Vineeth, Pathalapati Radhika
Internal Medicine, Capital Hospital, Islamabad, PAK.
Medicine, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, IND.
Cureus. 2021 Dec 21;13(12):e20577. doi: 10.7759/cureus.20577. eCollection 2021 Dec.
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.
巴德-比德尔综合征（BBS），也称为劳伦斯-穆恩-巴德-比德尔综合征，是一种独特的常染色体隐性遗传病，累及多个器官系统，在欧洲和美国的发病率低于1/100,000。我们报告一例27岁患有BBS且有高血压病史的男性病例。他小时候被诊断出患有BBS。体格检查发现其足部多指畸形。肾脏超声显示左肾有双集合系统，大小为1.9×6.1×3.6cm，从左上象限延伸至左下象限。腹部CT显示右半侧马蹄肾。BBS中的肾脏异常最近已被发现。BBS还与多种心脏表现有关，如动脉导管未闭、心肌病和瓣膜疾病。BBS需要多学科管理，并由肾病学家密切随访，以降低发病率和死亡率。对该疾病进行基因和分子定位将有助于了解先天性肾纤毛病。
