Diagnostic policies on nephrolithiasis/nephrocalcinosis of possible genetic origin by Italian nephrologists: a survey by the Italian Society of Nephrology with an emphasis on primary hyperoxaluria.
Dialysis
Kidney transplant
Nephrocalcinosis
Primary hyperoxaluria
Journal
Journal of nephrology
ISSN: 1724-6059
Titre abrégé: J Nephrol
Pays: Italy
ID NLM: 9012268
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
received:
09
01
2023
accepted:
30
05
2023
medline:
3
8
2023
pubmed:
26
6
2023
entrez:
26
6
2023
Statut:
ppublish
Résumé
Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three different forms of primary hyperoxaluria are currently known, each characterized by a specific enzymatic defect: type 1 (PH1), type 2 (PH2), and type 3 (PH3). According to currently available epidemiological data, PH1 is by far the most common form (about 80% of cases), and is caused by a deficiency of the hepatic enzyme alanine:glyoxylate aminotransferase. A survey on rare forms of nephrolithiasis and nephrocalcinosis with a focus on primary hyperoxaluria in the setting of Italian Nephrology and Dialysis Centers, using an online questionnaire, was recently conducted by the Project Group "Rare Forms of Nephrolithiasis and Nephrocalcinosis" of the Italian Society of Nephrology, with the aim of assessing the impact and management of this disorder in clinical practice in Italy. Forty-five public and private Italian Centers participated in the survey, and responses to the questionnaire were provided by 54 medical professionals. The survey results indicate that 21 out of the 45 participating Centers are managing or have managed primary hyperoxaluria patients, most of whom are on dialysis, or are recipients of kidney transplants. The data of this survey indicate the need to implement genetic testing in suspected cases of primary hyperoxaluria, not only in the setting of dialysis or transplantation, but also with the aim of encouraging early diagnosis of PH1, which is the only type of primary hyperoxaluria for which specific drug therapy is currently available.
Sections du résumé
BACKGROUND
Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three different forms of primary hyperoxaluria are currently known, each characterized by a specific enzymatic defect: type 1 (PH1), type 2 (PH2), and type 3 (PH3). According to currently available epidemiological data, PH1 is by far the most common form (about 80% of cases), and is caused by a deficiency of the hepatic enzyme alanine:glyoxylate aminotransferase.
METHODS
A survey on rare forms of nephrolithiasis and nephrocalcinosis with a focus on primary hyperoxaluria in the setting of Italian Nephrology and Dialysis Centers, using an online questionnaire, was recently conducted by the Project Group "Rare Forms of Nephrolithiasis and Nephrocalcinosis" of the Italian Society of Nephrology, with the aim of assessing the impact and management of this disorder in clinical practice in Italy.
RESULTS
Forty-five public and private Italian Centers participated in the survey, and responses to the questionnaire were provided by 54 medical professionals. The survey results indicate that 21 out of the 45 participating Centers are managing or have managed primary hyperoxaluria patients, most of whom are on dialysis, or are recipients of kidney transplants.
CONCLUSIONS
The data of this survey indicate the need to implement genetic testing in suspected cases of primary hyperoxaluria, not only in the setting of dialysis or transplantation, but also with the aim of encouraging early diagnosis of PH1, which is the only type of primary hyperoxaluria for which specific drug therapy is currently available.
Identifiants
pubmed: 37358729
doi: 10.1007/s40620-023-01693-x
pii: 10.1007/s40620-023-01693-x
pmc: PMC10393840
doi:
Substances chimiques
Oxalates
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1605-1614Informations de copyright
© 2023. The Author(s).
Références
Kidney Int. 2009 Jun;75(12):1264-1271
pubmed: 19225556
Hum Mutat. 2003 Dec;22(6):497
pubmed: 14635115
J Hum Genet. 2006;51(1):25-30
pubmed: 16247550
J Am Soc Nephrol. 2015 Mar;26(3):543-51
pubmed: 25296721
Int J Mol Sci. 2020 May 20;21(10):
pubmed: 32443777
J Urol. 2014 Aug;192(2):316-24
pubmed: 24857648
J Nephrol. 2021 Aug;34(4):1337-1346
pubmed: 32918723
BMC Nephrol. 2021 Nov 27;22(1):393
pubmed: 34837989
Nat Rev Nephrol. 2012 Jun 12;8(8):467-75
pubmed: 22688746
PLoS One. 2019 Aug 8;14(8):e0220768
pubmed: 31393935
Nat Rev Nephrol. 2023 Mar;19(3):194-211
pubmed: 36604599
Kidney Int. 2018 Jan;93(1):204-213
pubmed: 28893421
J Am Soc Nephrol. 2021 Sep;32(9):2375-2385
pubmed: 34281958
J Am Soc Nephrol. 2015 Oct;26(10):2559-70
pubmed: 25644115