Bardet-Biedl Syndrome Diagnosed at an Advanced Age

Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive multi-systemic genetic disorder caused by defects in genes affecting the centrosome and ciliary transport. It is primarily characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, genital abnormalities, renal defects, and mental retardation. Twenty-one genes (BBS1-BBS20 and NPHP1) have been identified to date; the most common genes are BBS1 (Locus 11q13) and BBS10. Chronic kidney disease is a major cause of morbidity and mortality. Herein we presented a patient with chronic renal failure who had delayed diagnosis of BBS. The early diagnosis and a multidisciplinary management of BBS with renal involvement has a critical importance.