title: Bardet-Biedl Syndrome with End Stage Renal Disease.
abstract: Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental retardation, along with a brief review of the literature. The patient had end stage renal disease and managed with dialysis. This case also exemplifies the need for multidisciplinary approach in the management of such cases.
authors.affiliation: Department and Institutions, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580009, State-Karnataka, India.
authors.forename: Rajendrakumar
authors.initials: R
authors.lastname: Parakh
authors.affiliation: Department and Institutions, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580009, State-Karnataka, India.
authors.forename: Dhananjaya Matapadi
authors.initials: DM
authors.lastname: Nairy
keywords: Bardet–Biedl syndrome; Chronic kidney failure; Dialysis; Hypogonadism; Retinitis pigmentosa