Renal failure due to Bardet-Biedl syndrome. A case report.
OBJECTIVE
To describe a case of Bardet-Biedl syndrome involving renal failure and retinal dystrophy.


METHODS
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.


CONCLUSIONS
Bardet-Biedl syndrome should be considered in patients with polydactyly, retinitis pigmentosa and renal failure.
Department of Internal Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey. kkaynar@yahoo.com
Sukru
S
Ulusoy
Kubra
K
Kaynar
Semih
S
Gul
Kubilay
K
Ukinc
D020788:Bardet-Biedl Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000628:therapy; D008875:Middle Aged; D006435:Renal Dialysis