title: 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.
  
  
  METHODS
  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.affiliation: Faculty of Medicine, "Ovidius" University, 145 Tomis Blvd, Constanta 900591, Romania. cristina2603@yahoo.com.
authors.forename: Cristina M
authors.initials: CM
authors.lastname: Mihai
authors.forename: Jan D
authors.initials: JD
authors.lastname: Marshall
authors.forename: Ramona M
authors.initials: RM
authors.lastname: Stoicescu