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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...

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Autores principales: Halfon, Matthieu, Cochat, Pierre, Kissling, Sebastien, Dattner, Nicolas, de Leval, Laurence, Fakhouri, Fadi, Pruijm, Menno, Bonny, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
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.
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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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