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

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,...

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Autores principales: Mihai, Cristina M, Marshall, Jan D, Stoicescu, Ramona M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174128/
https://www.ncbi.nlm.nih.gov/pubmed/21843323
http://dx.doi.org/10.1186/1752-1947-5-378
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author Mihai, Cristina M
Marshall, Jan D
Stoicescu, Ramona M
author_facet Mihai, Cristina M
Marshall, Jan D
Stoicescu, Ramona M
author_sort Mihai, Cristina M
collection PubMed
description 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.
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spelling pubmed-31741282011-09-16 Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report Mihai, Cristina M Marshall, Jan D Stoicescu, Ramona M J Med Case Reports Case Report 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. BioMed Central 2011-08-15 /pmc/articles/PMC3174128/ /pubmed/21843323 http://dx.doi.org/10.1186/1752-1947-5-378 Text en Copyright ©2011 Mihai et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mihai, Cristina M
Marshall, Jan D
Stoicescu, Ramona M
Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title_full Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title_fullStr Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title_full_unstemmed Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title_short Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
title_sort bardet-biedl syndrome with end-stage kidney disease in a four-year-old romanian boy: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3174128/
https://www.ncbi.nlm.nih.gov/pubmed/21843323
http://dx.doi.org/10.1186/1752-1947-5-378
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