Young Male With End-Stage Renal Disease Due to Primary Hyperoxaluria Type 2: A Rare Presentation.
dialysis
end-stage renal disease
genetic testing
nephrolithiasis
primary hyperoxaluria type 2 (ph2)
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
19
08
2023
accepted:
05
10
2023
medline:
7
11
2023
pubmed:
7
11
2023
entrez:
7
11
2023
Statut:
epublish
Résumé
Primary hyperoxaluria type 2 (PH2) is a rare genetic disorder characterized by excessive oxalate production due to glyoxylate metabolism alterations. This case report presents a 26-year-old male with PH2 who experienced recurrent nephrolithiasis since childhood, leading to end-stage renal disease (ESRD). The patient's history prompted genetic testing, which revealed a heterozygous missense variant in the
Identifiants
pubmed: 37933374
doi: 10.7759/cureus.46555
pmc: PMC10625654
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e46555Informations de copyright
Copyright © 2023, Kashiv et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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