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.
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: Jan D Marshall; Roderick T Bronson; Gayle B Collin; Anne D Nordstrom; Pietro Maffei; Richard B Paisey; Catherine Carey; Seamus Macdermott; Isabelle Russell-Eggitt; Sarah E Shea; Judy Davis; Sebastian Beck; Gocha Shatirishvili; Cristina Maria Mihai; Maria Hoeltzenbein; Giovanni Battista Pozzan; Ian Hopkinson; Nicola Sicolo; Jürgen K Naggert; Patsy M Nishina Journal: Arch Intern Med Date: 2005-03-28
Authors: Jun Chul Kim; Jose L Badano; Sonja Sibold; Muneer A Esmail; Josephine Hill; Bethan E Hoskins; Carmen C Leitch; Kerrie Venner; Stephen J Ansley; Alison J Ross; Michel R Leroux; Nicholas Katsanis; Philip L Beales Journal: Nat Genet Date: 2004-04-25 Impact factor: 38.330
Authors: Vivek B Kute; Aruna V Vanikar; Manoj R Gumber; Himanshu V Patel; Pankaj R Shah; Sachin B Patil; Hargovind L Trivedi Journal: Indian J Clin Biochem Date: 2012-10-30