Primary hyperoxaluria: the adult nephrologist's point of view.
clinical presentation
diagnosis of rare diseases
kidney stones
primary non-function
screening for rare disease
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
May 2022
May 2022
Historique:
received:
01
12
2021
entrez:
17
6
2022
pubmed:
18
6
2022
medline:
18
6
2022
Statut:
epublish
Résumé
In adults, primary hyperoxaluria (PH) does not always present as obviously as in children, leading to delayed or even missed diagnosis. When diagnosed in adulthood, PH usually progresses at a slower rate and the focus is on the prevention of recurrent kidney stones as much as it is on the preservation of renal function. The most tragic presentation is when the diagnosis is made after primary non-function of a renal graft for treating previously unknown renal disease. Recurrent stones, nephrocalcinosis and features of systemic oxalosis can all be presenting features. For these reasons, consideration should be given to screening for this rare condition, using biochemical and/or genetic means, but being careful to exclude common differential diagnoses. Such efforts should be synchronized with diagnostic methods for other rare kidney diseases.
Identifiants
pubmed: 35711295
doi: 10.1093/ckj/sfac068
pii: sfac068
pmc: PMC9194796
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
i29-i32Subventions
Organisme : NIDDK NIH HHS
ID : P01 DK056788
Pays : United States
Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.
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