AI Article Synopsis
- Bardet-Biedl syndrome is a rare genetic disorder that is typically diagnosed in childhood based on specific clinical signs.
- Three cases were identified in patients with end-stage renal disease at a dialysis center when they began maintenance hemodialysis, while one case was found through screening of their relatives.
- Nephrologists play a crucial role in managing these patients as renal failure is the leading cause of death in this syndrome, and late diagnoses can aid in discovering additional cases among family members.
Article Abstract
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center. Three cases were diagnosed in end-stage renal disease patients when they started maintenance hemodialysis, and one case was diagnosed through screening among hemodialysis patients' relatives. Although pediatricians have more opportunity to diagnose the syndrome, nephrologists are important during the treatment, since renal failure is the main cause of death among Bardet-Biedl syndrome patients. Moreover, late diagnosis of the syndrome among patients with end-stage renal disease can help to detect new cases through the screening among hemodialysis patients' relatives.
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| http://dx.doi.org/10.5935/0101-2800.20140037 | DOI Listing |
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