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Open Access Case report

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Cristina M Mihai1*, Jan D Marshall2 and Ramona M Stoicescu3

Author Affiliations

1 Faculty of Medicine, "Ovidius" University, 145 Tomis Blvd, Constanta 900591, Romania

2 The Jackson Laboratory 600 Main Street Bar Harbor, Maine 04609 USA

3 Faculty of Pharmacy, "Ovidius" University, 145 Tomis Blvd, Constanta 900591, Romania

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Journal of Medical Case Reports 2011, 5:378  doi:10.1186/1752-1947-5-378

Published: 15 August 2011

Abstract

Background

Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age and continuous ambulatory peritoneal dialysis, however, are not commonly mentioned in the literature.

Case presentation

We present the case of a four-year-old Romanian boy who presented to our department with 'febrile seizures'. After an initial evaluation, we diagnosed our patient as having hypertension, severe anemia and end-stage renal disease. He met the major and minor criteria for the diagnosis of Bardet-Biedl syndrome and underwent continuous ambulatory peritoneal dialysis.

Conclusions

Close follow-up for renal involvement in patients with Bardet-Biedl syndrome and Alström syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.