Cargando…
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...
Autores principales: | , , , , , |
---|---|
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 |
_version_ | 1783568893941383168 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7413989 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT sternrachel acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT kuovicky acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT rogalsarah acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT barroncarly acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT ahmedraidour acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT goldwasserbernard acaseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT sternrachel caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT kuovicky caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT rogalsarah caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT barroncarly caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT ahmedraidour caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 AT goldwasserbernard caseoffailuretothrivesecondarytoprimaryhyperoxaluriatype1 |