A stone in the bone.
Détails
Télécharger: 34765391_BIB_5CF3D22FA261.pdf (3719.54 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_5CF3D22FA261
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
A stone in the bone.
Périodique
JIMD reports
ISSN
2192-8304 (Print)
ISSN-L
2192-8304
Statut éditorial
Publié
Date de publication
11/2021
Peer-reviewed
Oui
Volume
62
Numéro
1
Pages
6-8
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Résumé
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.
Mots-clé
bone, chronic kidney disease, hypercalcemia, oxalate, oxalosis, primary hyperoxaluria
Pubmed
Open Access
Oui
Création de la notice
15/11/2021 8:31
Dernière modification de la notice
12/01/2022 7:10