DOI: https://doi.org/10.36347/sasjm.2025.v11i06.004

Pages: 614-615

Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic disorder characterized by intellectual disability and multi-organ involvement, particularly renal impairment, which is a major determinant of prognosis. We report two cases of BBS managed in our department due to renal insufficiency. Case 1 involves a 17-year-old female with facio-truncal obesity, retinitis pigmentosa, and learning difficulties, who developed end-stage renal failure over two years and is currently undergoing pre-transplantation evaluation. Case 2 describes a 7-year-old male with obesity, hexadactyly, cryptorchidism, and retinitis pigmentosa, diagnosed with BBS based on five major and two minor criteria, showing moderate renal insufficiency. Diagnosis of BBS is based on the presence of major and minor criteria, and it is genetically heterogeneous, with mutations in 12 genes responsible for the function of primary cilia. Renal involvement is the primary determinant of prognosis, and early detection through molecular diagnosis and genetic counseling is crucial. Consanguinity is a key risk factor for BBS, and renal function should be closely monitored in affected individuals.