title: Bardet-Biedl syndrome: A rare cause of end stage renal disease.
abstract: Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.
authors: Department of Nephrology, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.
authors: R
authors: R
authors: Hemachandar
keywords: Bardet–Biedl syndrome; ciliopathy; end stage renal disease