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Bardet-Biedl Syndrome with End Stage Renal Disease | ||
| Iranian Journal of Medical Sciences | ||
| مقاله 10، دوره 41، شماره 6، بهمن 2016، صفحه 539-542 اصل مقاله (428.53 K) | ||
| نوع مقاله: Case Report(s) | ||
| نویسندگان | ||
| Rajendrakumar Parakh؛ Dhananjaya Matapadi Nairy* | ||
| Department and Institutions, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580009, State-Karnataka, India | ||
| چکیده | ||
| 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. | ||
| کلیدواژهها | ||
| Bardet–Biedl syndrome؛ Hypogonadism؛ Retinitis pigmentosa؛ Chronic kidney failure؛ Dialysis | ||
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آمار تعداد مشاهده مقاله: 1,876 تعداد دریافت فایل اصل مقاله: 711 |
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