ESPE Abstracts

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited ciliopathy with pathogenic variants in at least 26 BBS genes. It affects multiple organs including kidney and liver; however, organ involvement differs widely regarding extent and time of first manifestation. Structural renal anomalies are an early feature with a frequency of > 50% and end-stage kidney disease (ESKD) cumulates to 25% in adolescence. Early-onset hyperphagia-assoc...