Bardet-Biedl syndrome with end-stage kidney disease: A case report and review of literature

M Rathi; A Ganguli; SK Singh; HS Kohli; KL Gupta; V Sakhuja; V Jha

doi:10.4103/0971-4065.35014

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CASE REPORT

Year : 2007 | Volume : 17 | Issue : 1 | Page : 10-13

Bardet-Biedl syndrome with end-stage kidney disease: A case report and review of literature

M Rathi¹, A Ganguli¹, SK Singh², HS Kohli¹, KL Gupta¹, V Sakhuja¹, V Jha¹
¹ Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India
² Department of Urology, Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012, India

Correspondence Address:
V Jha
Postgraduate Institute of Medical Education and Research, Chandigarh - 160 012
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/0971-4065.35014

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 the first case of BBS with documented end-stage kidney disease from India. The diagnosis had been missed until the patient presented at our hospital. The relevant literature has also been reviewed.

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