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

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.

• Authors: Cristina M Mihai, Jan D Marshall, Ramona M Stoicescu
• Journal: Journal of medical case reports (J Med Case Rep) Vol. 5 Pg. 378 (Aug 15 2011) ISSN: 1752-1947 [Electronic] England
• PMID: 21843323 (Publication Type: Journal Article)