• Title of article

    Bardet-Biedl Syndrome with End Stage Renal Disease

  • Author/Authors

    Parakh, Rajendrakumar Department and Institutions - SDM College of Medical Sciences and Hospital - Sattur - Dharwad-580009 - State-Karnataka - India , Matapadi Nairy, Dhananjaya Department and Institutions - SDM College of Medical Sciences and Hospital - Sattur - Dharwad-580009 - State-Karnataka - India

  • Pages
    4
  • From page
    539
  • To page
    542
  • 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.
  • Keywords
    Bardet–Biedl syndrome , Hypogonadism , Retinitis pigmentosa , Chronic kidney failure , Dialysis
  • Journal title
    Astroparticle Physics
  • Serial Year
    2016
  • Record number

    2445269