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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Iranian Journal of Medical Sciences
2016
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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. |
format | Online Article Text |
id | pubmed-5106570 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Iranian Journal of Medical Sciences |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT parakhrajendrakumar bardetbiedlsyndromewithendstagerenaldisease AT nairydhananjayamatapadi bardetbiedlsyndromewithendstagerenaldisease |