Limited Treatment Options in Primary Hyperoxaluria with Renal Failure.
Chronic hemodialysis
Chronic renal failure
Genetic diseases
Primary hyperoxaluria
Renal biopsy
Journal
Case reports in nephrology and dialysis
ISSN: 2296-9705
Titre abrégé: Case Rep Nephrol Dial
Pays: Switzerland
ID NLM: 101636294
Informations de publication
Date de publication:
Historique:
received:
22
04
2020
accepted:
11
07
2020
entrez:
11
11
2020
pubmed:
12
11
2020
medline:
12
11
2020
Statut:
epublish
Résumé
Primary hyperoxaluria (PH) is a rare autosomal recessive metabolic disorder where serum oxalate levels rise due to overproduction. The kidney tubule is a main target for oxalate deposition, resulting in damage to the organ. Kidney failure is rare in these patients. We present a 67-year-old female with hemodialysis-dependent end-stage renal disease likely due to PH type 2 or 3. With extremely high levels of serum oxalate (60.4 μmol/L), this patient had minimal treatment options for her rare disease. This report details a unique presentation of a rare disease where kidney biopsy was instrumental.
Identifiants
pubmed: 33173783
doi: 10.1159/000510143
pii: cnd-0010-0104
pmc: PMC7588674
doi:
Types de publication
Case Reports
Langues
eng
Pagination
104-108Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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