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CASE REPORT
Year : 2015  |  Volume : 5  |  Issue : 1  |  Page : 70-72

Bardet-Biedl syndrome: A rare cause of end stage renal disease


Department of Nephrology, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India

Correspondence Address:
R Hemachandar
Department of Nephrology, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry - 607 402
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2229-516X.149254

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Bardet-Biedl syndrome is a rare autosomal recessive disorder, recently categorized as ciliopathy characterized by dysfunction of primary cilia which results in myriad manifestations in various organ systems. Though renal abnormalities can occur in this syndrome, renal failure is a rare presentation. The author reports a case of 18-year-old female who presented with polydactyly, obesity, retinitis pigmentosa, learning disability and renal failure.


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