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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2020
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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. |
format | Online Article Text |
id | pubmed-7588674 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT geigerkyle limitedtreatmentoptionsinprimaryhyperoxaluriawithrenalfailure AT mrochhenry limitedtreatmentoptionsinprimaryhyperoxaluriawithrenalfailure |