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Limited Treatment Options in Primary Hyperoxaluria with Renal Failure

Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female wi...

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Detalles Bibliográficos
Autores principales: Geiger, Kyle, Mroch, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588674/
https://www.ncbi.nlm.nih.gov/pubmed/33173783
http://dx.doi.org/10.1159/000510143
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author Geiger, Kyle
Mroch, Henry
author_facet Geiger, Kyle
Mroch, Henry
author_sort Geiger, Kyle
collection PubMed
description Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 μmol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental.
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spelling pubmed-75886742020-11-09 Limited Treatment Options in Primary Hyperoxaluria with Renal Failure Geiger, Kyle Mroch, Henry Case Rep Nephrol Dial Single Case Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 μmol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental. S. Karger AG 2020-10-05 /pmc/articles/PMC7588674/ /pubmed/33173783 http://dx.doi.org/10.1159/000510143 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Single Case
Geiger, Kyle
Mroch, Henry
Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title_full Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title_fullStr Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title_full_unstemmed Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title_short Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
title_sort limited treatment options in primary hyperoxaluria with renal failure
topic Single Case
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7588674/
https://www.ncbi.nlm.nih.gov/pubmed/33173783
http://dx.doi.org/10.1159/000510143
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