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A case of failure to thrive secondary to primary hyperoxaluria type 1

Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of primary hyperoxaluria type 1. The patient exhi...

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Detalles Bibliográficos
Autores principales: Stern, Rachel, Kuo, Vicky, Rogal, Sarah, Barron, Carly, Ahmed, Raidour, Goldwasser, Bernard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413989/
https://www.ncbi.nlm.nih.gov/pubmed/32793322
http://dx.doi.org/10.1016/j.radcr.2020.07.019
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author Stern, Rachel
Kuo, Vicky
Rogal, Sarah
Barron, Carly
Ahmed, Raidour
Goldwasser, Bernard
author_facet Stern, Rachel
Kuo, Vicky
Rogal, Sarah
Barron, Carly
Ahmed, Raidour
Goldwasser, Bernard
author_sort Stern, Rachel
collection PubMed
description Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of primary hyperoxaluria type 1. The patient exhibits a unique presentation without renal failure at the time of diagnosis suggesting a previously unreported comorbidity in early stages of disease.
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spelling pubmed-74139892020-08-12 A case of failure to thrive secondary to primary hyperoxaluria type 1 Stern, Rachel Kuo, Vicky Rogal, Sarah Barron, Carly Ahmed, Raidour Goldwasser, Bernard Radiol Case Rep Pediatric Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of primary hyperoxaluria type 1. The patient exhibits a unique presentation without renal failure at the time of diagnosis suggesting a previously unreported comorbidity in early stages of disease. Elsevier 2020-08-05 /pmc/articles/PMC7413989/ /pubmed/32793322 http://dx.doi.org/10.1016/j.radcr.2020.07.019 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Pediatric
Stern, Rachel
Kuo, Vicky
Rogal, Sarah
Barron, Carly
Ahmed, Raidour
Goldwasser, Bernard
A case of failure to thrive secondary to primary hyperoxaluria type 1
title A case of failure to thrive secondary to primary hyperoxaluria type 1
title_full A case of failure to thrive secondary to primary hyperoxaluria type 1
title_fullStr A case of failure to thrive secondary to primary hyperoxaluria type 1
title_full_unstemmed A case of failure to thrive secondary to primary hyperoxaluria type 1
title_short A case of failure to thrive secondary to primary hyperoxaluria type 1
title_sort case of failure to thrive secondary to primary hyperoxaluria type 1
topic Pediatric
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413989/
https://www.ncbi.nlm.nih.gov/pubmed/32793322
http://dx.doi.org/10.1016/j.radcr.2020.07.019
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