Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.
GRHPR
functional analysis
kidney transplantation
mutation
pedigree
primary hyperoxaluria type 2
Journal
Renal failure
ISSN: 1525-6049
Titre abrégé: Ren Fail
Pays: England
ID NLM: 8701128
Informations de publication
Date de publication:
Dec 2024
Dec 2024
Historique:
medline:
24
10
2024
pubmed:
24
10
2024
entrez:
24
10
2024
Statut:
ppublish
Résumé
Primary hyperoxaluria type 2 (PH2) is a rare disorder caused by We report a case of PH2 with a three-generational pedigree. The The proband underwent her first kidney transplantation in 2015, and experienced recurrent urinary tract infections and urolithiasis postoperatively. Graft failure occurred in 2018. Whole exome sequencing identified compound heterozygous Our findings suggest that treatment strategies for the long-term prevention of oxalate nephropathy should be developed for patients with PH2 receiving isolated kidney transplantation. Moreover, the pathogenicity of the compound heterozygous
Sections du résumé
BACKGROUND
UNASSIGNED
Primary hyperoxaluria type 2 (PH2) is a rare disorder caused by
METHODS
UNASSIGNED
We report a case of PH2 with a three-generational pedigree. The
RESULTS
UNASSIGNED
The proband underwent her first kidney transplantation in 2015, and experienced recurrent urinary tract infections and urolithiasis postoperatively. Graft failure occurred in 2018. Whole exome sequencing identified compound heterozygous
CONCLUSIONS
UNASSIGNED
Our findings suggest that treatment strategies for the long-term prevention of oxalate nephropathy should be developed for patients with PH2 receiving isolated kidney transplantation. Moreover, the pathogenicity of the compound heterozygous
Identifiants
pubmed: 39444286
doi: 10.1080/0886022X.2024.2417743
doi:
Substances chimiques
Alcohol Oxidoreductases
EC 1.1.-
glyoxylate reductase
EC 1.1.1.26
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM