A stone in the bone.
Details
Serval ID
serval:BIB_5CF3D22FA261
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
A stone in the bone.
Journal
JIMD reports
ISSN
2192-8304 (Print)
ISSN-L
2192-8304
Publication state
Published
Issued date
11/2021
Peer-reviewed
Oui
Volume
62
Number
1
Pages
6-8
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Publication Status: epublish
Abstract
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.
Keywords
bone, chronic kidney disease, hypercalcemia, oxalate, oxalosis, primary hyperoxaluria
Pubmed
Open Access
Yes
Create date
15/11/2021 8:31
Last modification date
12/01/2022 7:10