Abstract

Background: 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.
Case Reports: 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.
Conclusions: 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.

Keywords: Obesity - diet therapy, Kidney Failure, Chronic - prevention & control, Kidney - physiopathology, Diet, Protein-Restricted, Creatinine - blood, Caloric Restriction, Body Mass Index, Bardet-Biedl Syndrome - diet therapy, Radionuclide Imaging, Turkey