Bardet-Biedl Syndrome with End Stage Renal Disease

Authors

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

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Journal title

volume 41  issue 6

pages  539- 542

publication date 2016-11-01

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