Title of article
Bardet-Biedl Syndrome with End Stage Renal Disease
Author/Authors
Parakh, Rajendrakumar Department and Institutions - SDM College of Medical Sciences and Hospital - Sattur - Dharwad-580009 - State-Karnataka - India , Matapadi Nairy, Dhananjaya Department and Institutions - SDM College of Medical Sciences and Hospital - Sattur - Dharwad-580009 - State-Karnataka - India
Pages
4
From page
539
To page
542
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
Journal title
Astroparticle Physics
Serial Year
2016
Record number
2445269
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