A stone in the bone. Issue 1 (8th October 2021)
- Record Type:
- Journal Article
- Title:
- A stone in the bone. Issue 1 (8th October 2021)
- Main Title:
- A stone in the bone
- Authors:
- Halfon, Matthieu
Cochat, Pierre
Kissling, Sebastien
Dattner, Nicolas
de Leval, Laurence
Fakhouri, Fadi
Pruijm, Menno
Bonny, Olivier - Abstract:
- 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.
- Is Part Of:
- JIMD reports. Volume 62:Issue 1(2021)
- Journal:
- JIMD reports
- Issue:
- Volume 62:Issue 1(2021)
- Issue Display:
- Volume 62, Issue 1 (2021)
- Year:
- 2021
- Volume:
- 62
- Issue:
- 1
- Issue Sort Value:
- 2021-0062-0001-0000
- Page Start:
- 6
- Page End:
- 8
- Publication Date:
- 2021-10-08
- Subjects:
- bone -- chronic kidney disease -- hypercalcemia -- oxalate -- oxalosis -- primary hyperoxaluria
Metabolism, Inborn errors of -- Periodicals
Metabolism -- Disorders -- Periodicals
616.39042 - Journal URLs:
- https://onlinelibrary.wiley.com/loi/21928312 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1002/jmd2.12246 ↗
- Languages:
- English
- ISSNs:
- 2192-8304
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 20711.xml