Primary Hyperoxaluria Type 3 Can Also Result in Kidney Failure: A Case Report.
Case report
PH3
hyperoxaluria
kidney failure
kidney stone
mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1)
mutation
oxalate
primary hyperoxaluria (PH)
urinary tract infections (UTIs)
Journal
American journal of kidney diseases : the official journal of the National Kidney Foundation
ISSN: 1523-6838
Titre abrégé: Am J Kidney Dis
Pays: United States
ID NLM: 8110075
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
18
02
2021
accepted:
25
05
2021
pubmed:
11
7
2021
medline:
3
2
2022
entrez:
10
7
2021
Statut:
ppublish
Résumé
Primary hyperoxaluria (PH) is a group of genetic disorders that result in an increased hepatic production of oxalate. PH type 3 (PH3) is the most recently identified subtype and results from mutations in the mitochondrial 4-hydroxy-2-oxoglutarate aldolase gene (HOGA1). To date, there have been 2 cases of kidney failure reported in PH3 patients. We present a case of a young man with a history of recurrent urinary tract infections and voiding dysfunction who developed kidney failure at 33 years of age. He developed a bladder stone and bilateral staghorn calculi at 12 years of age. Initial metabolic evaluation revealed hyperoxaluria with very low urinary citrate excretion on multiple measurements for which he was placed on oral citrate supplements. Further investigation of the hyperoxaluria was not completed as the patient was lost to follow-up observation until he presented at 29 years of age with chronic kidney disease stage 4 (estimated glomerular filtration rate 24mL/min/1.73m
Identifiants
pubmed: 34245816
pii: S0272-6386(21)00705-8
doi: 10.1053/j.ajkd.2021.05.016
pmc: PMC8692335
mid: NIHMS1734993
pii:
doi:
Substances chimiques
Oxalates
0
Oxo-Acid-Lyases
EC 4.1.3.-
Types de publication
Case Reports
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
125-128Subventions
Organisme : NCATS NIH HHS
ID : R21 TR003174
Pays : United States
Organisme : NIDDK NIH HHS
ID : U54 DK083908
Pays : United States
Informations de copyright
Copyright © 2021 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.
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