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A stone in the bone
Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involve...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574174/ https://www.ncbi.nlm.nih.gov/pubmed/34765391 http://dx.doi.org/10.1002/jmd2.12246 |
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author | Halfon, Matthieu Cochat, Pierre Kissling, Sebastien Dattner, Nicolas de Leval, Laurence Fakhouri, Fadi Pruijm, Menno Bonny, Olivier |
author_facet | Halfon, Matthieu Cochat, Pierre Kissling, Sebastien Dattner, Nicolas de Leval, Laurence Fakhouri, Fadi Pruijm, Menno Bonny, Olivier |
author_sort | Halfon, Matthieu |
collection | PubMed |
description | Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involvement varies between the three types. Indeed, between 60% and 80% of PH1 but only 20% of PH2 patients will reach end‐stage kidney disease. In PH3 patients, dialysis is uncommon. Because oxalate clearance is impaired in CKD patients, oxalate can precipitate in various organs leading to systemic oxalosis. We report an uncommon presentation of bone oxalosis associated with hypercalcemia in a dialyzed patient. This report emphasizes the difficulties to diagnose primary hyperoxaluria and the challenge of treating dialyzed patients. |
format | Online Article Text |
id | pubmed-8574174 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-85741742021-11-10 A stone in the bone Halfon, Matthieu Cochat, Pierre Kissling, Sebastien Dattner, Nicolas de Leval, Laurence Fakhouri, Fadi Pruijm, Menno Bonny, Olivier JIMD Rep Images in Metabolic Medicine Primary hyperoxaluria (PH) is a group of diseases due to mutations in genes coding for enzymes involved in oxalate metabolism. Three types of PH are identified depending on the gene mutated. Type 1 is the most frequent with 80% of the cases, while PH2 and PH3 are rarer. The severity of renal involvement varies between the three types. Indeed, between 60% and 80% of PH1 but only 20% of PH2 patients will reach end‐stage kidney disease. In PH3 patients, dialysis is uncommon. Because oxalate clearance is impaired in CKD patients, oxalate can precipitate in various organs leading to systemic oxalosis. We report an uncommon presentation of bone oxalosis associated with hypercalcemia in a dialyzed patient. This report emphasizes the difficulties to diagnose primary hyperoxaluria and the challenge of treating dialyzed patients. John Wiley & Sons, Inc. 2021-10-08 /pmc/articles/PMC8574174/ /pubmed/34765391 http://dx.doi.org/10.1002/jmd2.12246 Text en © 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Images in Metabolic Medicine Halfon, Matthieu Cochat, Pierre Kissling, Sebastien Dattner, Nicolas de Leval, Laurence Fakhouri, Fadi Pruijm, Menno Bonny, Olivier A stone in the bone |
title | A stone in the bone |
title_full | A stone in the bone |
title_fullStr | A stone in the bone |
title_full_unstemmed | A stone in the bone |
title_short | A stone in the bone |
title_sort | stone in the bone |
topic | Images in Metabolic Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574174/ https://www.ncbi.nlm.nih.gov/pubmed/34765391 http://dx.doi.org/10.1002/jmd2.12246 |
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