End stage renal disease, differential diagnosis, a rare genetic disorder: Bardet-Biedl syndrome: Case report and review

End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet-Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000-1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth. © Association of Clinical Biochemists of India 2011.