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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,...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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. |
format | Online Article Text |
id | pubmed-3174128 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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