Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences

Bardet-Biedl Syndrome with End Stage Renal Disease

Document Type : Case Report(s)

Authors

Rajendrakumar Parakh
Dhananjaya Matapadi Nairy

Department and Institutions, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580009, State-Karnataka, India

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
Iranian Journal of Medical Sciences
Volume 41, Issue 6 - Serial Number 6
81
November 2016
Pages 539-542

  • Received 29 November 2014
  • Revised 22 August 2020
  • Accepted 24 December 2018

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