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
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