Volume 23, Issue 91 (10-2014)
JGUMS 2014, 23(91): 68-72 |
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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. JGUMS 2014; 23 (91) :68-72
URL: http://journal.gums.ac.ir/article-1-818-en.html
URL: http://journal.gums.ac.ir/article-1-818-en.html
1- Guilan University of Medical Sciences, Velayat Subspecialty Center for Trauma, Burn and Plastic Surgery, Guilan University of Medical Sciences, Rasht, Iran
2- Guilan University of Medical Sciences
3- Guilan University of Medical Sciences, Student Research Committee, Guilan University of Medical Sciences, Rasht, Iran
2- Guilan University of Medical Sciences
3- Guilan University of Medical Sciences, Student Research Committee, Guilan University of Medical Sciences, Rasht, Iran
Abstract: (7026 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
Keywords: Bardet Biedl Syndrome, Renal Insufficienc
Review Paper: Research |
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Received: 2014/09/29 | Accepted: 2014/09/29 | Published: 2014/09/29
Received: 2014/09/29 | Accepted: 2014/09/29 | Published: 2014/09/29
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