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.
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| http://dx.doi.org/10.1007/s12291-012-0275-y | DOI Listing |
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