Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report.
J Med Case Reports 2011; 5:378.
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 Alstrom syndrome from an early age is highly recommended to prevent end-stage renal disease and so renal replacement therapy can be started immediately.
Mihai, C M.; Marshall, J D.; and Stoicescu, R M., "Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report." (2011). Faculty Research 2011. 66.