Volume 23, Issue 91 (10-2014)                   jour guilan uni med sci 2014, 23(91): 68-72 | Back to browse issues page

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Fallah Karkan M, Monfared A, Farahmand Porkar N. Bardet-Biedl Syndrome: a Case Report of a Woman Suffering From Renal Failure. jour guilan uni med sci. 2014; 23 (91) :68-72
URL: http://journal.gums.ac.ir/article-1-818-en.html
Guilan University of Medical Sciences
Abstract:   (4454 Views)
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. Conflict of interest: non declared
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Type of Study: Research | Subject: Special
Received: 2014/09/29 | Accepted: 2014/09/29 | Published: 2014/09/29

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