title: Bardet-biedl syndrome: a rare cause of chronic kidney disease.
abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive condition characterized by retinitis pigmentosa, postaxial polydactyly, central obesity, and renal involvement. Renal failure is the commonest cause of death. We report a case of BBS with chronic kidney disease (CKD) at younger age (17 year) from India. This diagnosis should be considered in patients with renal disease and the characteristic phenotype of retinitis pigmentosa, postaxial polydactyly and central obesity. These patients should undergo regular monitoring of renal function test to early diagnosis and treatment of CKD to prevent morbidity and mortality. Renal transplantation is a viable option of renal replacement therapy in these patients. These findings are valuable for comparing phenotype of BBS patients with CKD from various national and international centers.
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Vivek B
authors.initials: VB
authors.lastname: Kute
authors.affiliation: Department of Pathology, Laboratory Medicine, Transfusion Services and Immunohematology, IKDRC-ITS, Ahmedabad, India.
authors.forename: Aruna V
authors.initials: AV
authors.lastname: Vanikar
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Manoj R
authors.initials: MR
authors.lastname: Gumber
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Himanshu V
authors.initials: HV
authors.lastname: Patel
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Pankaj R
authors.initials: PR
authors.lastname: Shah
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Sachin B
authors.initials: SB
authors.lastname: Patil
authors.affiliation: Department of Nephrology and Clinical Transplantation, Institute of Kidney Diseases and Research Center, Dr. HL Trivedi Institute of Transplantation Sciences IKDRC-ITS, Civil Hospital Campus, Asarwa, Ahmedabad, 380016 Gujarat India.
authors.forename: Hargovind L
authors.initials: HL
authors.lastname: Trivedi
keywords: Bardet-Biedl syndrome; Central obesity; Chronic kidney disease; Polydactyly; Retinitis pigmentosa