Department of Nephrology, School of Medicine, Kocaeli University, Kocaeli, Turkey.
Med Sci Monit. 2011 Jan;17(1):CS12-14. doi: 10.12659/msm.881320.
Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disorder characterized by abdominal obesity, mental retardation, dysmorphic extremities, retinal dystrophy, hypogonadism, and kidney structural abnormalities or functional impairment. It is now considered a significant cause of chronic and end-stage renal disease in children. To the best of our knowledge there have been no previous studies on the role of diet in the management of renal functions in patients with BBS.
Two siblings, aged 32 and 27 years, with BBS are presented. On admission both patients were obese, with body mass indexes (BMI) of 40 and 39 kg/m2. Their creatinine clearances (CrCl) were 41 and 24 mL/min. After 2 years of follow-up with a diet consisting of 0.6 g/kg/day protein and 1400 kcal/day energy, their BMI's were decreased to 29 and 27 kg/m2, whereas their CrCl's were increased to 44 and 32 mL/min, respectively. 99mTc-MAG3 scintigraphy also revealed improved renal function.
Since this syndrome most likely results in end-stage renal disease, follow-up of renal dysfunction is essential. Low protein diet and/or obesity control may slow the progression of renal failure in patients with BBS.
Bardet-Biedl 综合征（BBS）是一种罕见的常染色体隐性遗传病，其特征为腹部肥胖、智力障碍、四肢畸形、视网膜营养不良、性腺功能减退以及肾脏结构异常或功能损害。目前，它被认为是儿童慢性和终末期肾病的重要病因。据我们所知，之前尚未有研究探讨饮食在 BBS 患者肾脏功能管理中的作用。
本文介绍了两名 BBS 患者，均为同胞兄妹，年龄分别为 32 岁和 27 岁。入院时，两名患者均肥胖，体重指数（BMI）分别为 40 和 39 kg/m2。他们的肌酐清除率（CrCl）分别为 41 和 24 mL/min。经过 2 年的随访，他们接受了 0.6 g/kg/天蛋白和 1400 kcal/天热量的饮食治疗，BMI 分别降至 29 和 27 kg/m2，CrCl 分别增至 44 和 32 mL/min。99mTc-MAG3 闪烁显像也显示肾脏功能得到改善。
由于该综合征很可能导致终末期肾病，因此对肾功能衰竭的随访至关重要。低蛋白饮食和/或控制肥胖可能会减缓 BBS 患者肾衰竭的进展。
