Bardet-Biedl syndrome presenting with end stage renal failure.
A young male presented in the Nephro-Urology Department with advanced renal failure, blindness in early childhood, polydactaly, obesity, decreased mentation and hypogonadism. With these phenotypical features and renal ultrasonographic findings, he was diagnosed as a case of Bardet-Biedl syndrome. Only one younger sister of patient had similar features. Renal impairment is frequent and an important cause of death. End stage renal disease (ESRD) is rarely seen in younger patient of Bardet-Biedl syndrome. However, ESRD in early age is associated with substantially reduced survival.
Ansari
Muhammad Rafique
MR
Department of Nephro-Urology, Liaquat University of Medical and Health Sciences, Jamshoro/Hyderabad. rafiq_87@hotmail.com
Junejo
Abdul Mannan
AM
D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000150:complications*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000150:complications*; D008297:Male