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Renal failure due to Bardet-Biedl syndrome. A case report
Sukru Ulusoy1, Kubra Kaynar, Semih Gul
1Department of Internal Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. kkaynar@yahoo.com
Objective:
To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy.
Case Presentation And Intervention:
A 50-year-old female patient presented to the emergency service with uremic symptoms and metabolic acidosis. Polydactyly, retinitis pigmentosa, obesity, strabismus, nistagmus and renal failure were found. Because she had end-stage renal failure, hemodialysis therapy was started. She has been well for 18 months, without any complication on hemodialysis.
Conclusion:
Bardet-Biedl syndrome should be considered in patients with polydactyly, retinitis pigmentosa and renal failure.
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