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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Main Authors: Rachel Stern, MD, Vicky Kuo, MD, Sarah Rogal, MD, MPH, Carly Barron, MD, Raidour Ahmed, MD, Bernard Goldwasser, MD
Format: Article
Language:English
Published: Elsevier 2020-10-01
Series:Radiology Case Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043320303265
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spelling doaj-4b26a3f6cd054bb9ae258ff074dadf172020-11-25T03:11:35ZengElsevierRadiology Case Reports1930-04332020-10-01151018061808A case of failure to thrive secondary to primary hyperoxaluria type 1Rachel Stern, MD0Vicky Kuo, MD1Sarah Rogal, MD, MPH2Carly Barron, MD3Raidour Ahmed, MD4Bernard Goldwasser, MD5Department of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USADepartment of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USADepartment of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USADepartment of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USA; Corresponding author.Department of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USADepartment of Radiology, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USAPrimary 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.http://www.sciencedirect.com/science/article/pii/S1930043320303265Primary HyperoxaluriaFailure to thriveKidney stoneUltrasound
collection DOAJ
language English
format Article
sources DOAJ
author Rachel Stern, MD
Vicky Kuo, MD
Sarah Rogal, MD, MPH
Carly Barron, MD
Raidour Ahmed, MD
Bernard Goldwasser, MD
spellingShingle Rachel Stern, MD
Vicky Kuo, MD
Sarah Rogal, MD, MPH
Carly Barron, MD
Raidour Ahmed, MD
Bernard Goldwasser, MD
A case of failure to thrive secondary to primary hyperoxaluria type 1
Radiology Case Reports
Primary Hyperoxaluria
Failure to thrive
Kidney stone
Ultrasound
author_facet Rachel Stern, MD
Vicky Kuo, MD
Sarah Rogal, MD, MPH
Carly Barron, MD
Raidour Ahmed, MD
Bernard Goldwasser, MD
author_sort Rachel Stern, MD
title 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_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_sort case of failure to thrive secondary to primary hyperoxaluria type 1
publisher Elsevier
series Radiology Case Reports
issn 1930-0433
publishDate 2020-10-01
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.
topic Primary Hyperoxaluria
Failure to thrive
Kidney stone
Ultrasound
url http://www.sciencedirect.com/science/article/pii/S1930043320303265
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