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Bardet-Biedl Syndrome with End Stage Renal Disease

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 s...

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Detalles Bibliográficos
Autores principales: Parakh, Rajendrakumar, Nairy, Dhananjaya Matapadi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Journal of Medical Sciences 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106570/
https://www.ncbi.nlm.nih.gov/pubmed/27853335
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author Parakh, Rajendrakumar
Nairy, Dhananjaya Matapadi
author_facet Parakh, Rajendrakumar
Nairy, Dhananjaya Matapadi
author_sort Parakh, Rajendrakumar
collection PubMed
description 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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spelling pubmed-51065702016-11-16 Bardet-Biedl Syndrome with End Stage Renal Disease Parakh, Rajendrakumar Nairy, Dhananjaya Matapadi Iran J Med Sci Case Report 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. Iranian Journal of Medical Sciences 2016-11 /pmc/articles/PMC5106570/ /pubmed/27853335 Text en Copyright: © Iranian Journal of Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Parakh, Rajendrakumar
Nairy, Dhananjaya Matapadi
Bardet-Biedl Syndrome with End Stage Renal Disease
title Bardet-Biedl Syndrome with End Stage Renal Disease
title_full Bardet-Biedl Syndrome with End Stage Renal Disease
title_fullStr Bardet-Biedl Syndrome with End Stage Renal Disease
title_full_unstemmed Bardet-Biedl Syndrome with End Stage Renal Disease
title_short Bardet-Biedl Syndrome with End Stage Renal Disease
title_sort bardet-biedl syndrome with end stage renal disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106570/
https://www.ncbi.nlm.nih.gov/pubmed/27853335
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