Report of four cases of Bardet-Biedl syndrome

Jornal Brasileiro de Nefrologia

Paulo Roberto Santos¹  Diego Levi Silveira Monteiro¹  Paulo Henrique Alexandre De Paula¹  Vicente Lopes Monte Neto¹ 

关键词: Bardet-Biedl syndrome;    genetic diseases;    inborn;    kidney failure;    chronic;    renal dialysis;    diálise renal;    doenças genéticas inatas;    falência renal crônica;    síndrome de Bardet-Biedl;   

DOI  :  10.5935/0101-2800.20140037

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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