Bardet-Biedl Syndrome: a Case Report of a Woman Suffering From Renal Failure

Fallah Karkan, M.; Monfared, A.; Farahmand Porkar, N.
October 2014
Journal of Guilan University of Medical Sciences;2014, Vol. 23 Issue 91, p68
Academic Journal
Introduction: Bardet Biedl syndrome is a rare hereditary disorder associated with central obesity, mental retardation, polydactyly, retinal dystrophy, retinitis pigmentosa, hypogenitlism, hypogonadism, renal failure. Renal failure is a major cause of mortality in these patients. This report highlights the clinical importance of considering a Bardet Biedl syndrome diagnosis in adults with retinal dystrophy, polydactyly and renal failure. Case Report: we present the case of a 32 yr old woman presented to our emergency room with uremic symptoms and metabolic acidosis. Conclusion: Bardet Biedl syndrome, a rare often forgotten or not been diagnosed disorder, should be promptly identified by pediatricians and timely be referred to the ophtalmologist, endocrinologist, and nephrologist.


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