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CASE REPORTS
JOURNAL ARTICLE
Renal failure due to Bardet-Biedl syndrome. A case report.
Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre 2004 November
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.
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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