A stone in the bone.
bone
chronic kidney disease
hypercalcemia
oxalate
oxalosis
primary hyperoxaluria
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Nov 2021
Nov 2021
Historique:
received:
20
05
2021
revised:
18
08
2021
accepted:
20
08
2021
entrez:
12
11
2021
pubmed:
13
11
2021
medline:
13
11
2021
Statut:
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.
Identifiants
pubmed: 34765391
doi: 10.1002/jmd2.12246
pii: JMD212246
pmc: PMC8574174
doi:
Types de publication
Journal Article
Langues
eng
Pagination
6-8Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors report no conflict of interest.
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