Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.
adult
glomerular disease
kidney disease
mitochondrial disorders
tubulointerstitial nephropathy
Journal
Clinical kidney journal
ISSN: 2048-8505
Titre abrégé: Clin Kidney J
Pays: England
ID NLM: 101579321
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
14
04
2022
entrez:
2
2
2023
pubmed:
3
2
2023
medline:
3
2
2023
Statut:
epublish
Résumé
Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney functions are highly dependent on mitochondrial respiration. However, the prevalence of MID-associated nephropathies (MIDANs) is unknown in the adult population. We aimed to address this point and to provide a full characterization of MIDANs in this population. We retrospectively included for observational study adults (≥16 years of age) with genetically diagnosed MID between 2000 and 2020 in our tertiary care academic centre when they had a chronic kidney disease (CKD) evaluation. MIDANs were ascertained by CKD occurring in MIDs. The phenotypic, biological, histopathological and genotypic characteristics were recorded from the medical charts. We included 80 MID-affected adults and ascertained MIDANs in 28/80 (35%). Kidney diseases under the care of a nephrologist occurred in only 14/28 (50%) of the adults with MIDAN. MIDANs were tubulointerstitial nephropathy in 14/28 patients (50%) and glomerular diseases in 9/28 (32.1%). In adults with MID, MIDAN was negatively associated with higher albumin levels {odds ratio [OR] 0.79 [95% confidence interval (CI) 0.67-0.95]} and vision abnormalities [OR 0.17 (95% CI 0.03-0.94)] and positively associated with hypertension [OR 4.23 (95% CI 1.04-17.17)]. MIDANs are frequent among adult MIDs. They are mostly represented by tubulointerstitial nephropathy or glomerular disease. Vision abnormalities, hypertension and albumin levels were independently associated with MIDANs. Our results pave the way for prospective studies investigating the prevalence of MIDANs among undetermined kidney disease populations.
Sections du résumé
Background
UNASSIGNED
Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney functions are highly dependent on mitochondrial respiration. However, the prevalence of MID-associated nephropathies (MIDANs) is unknown in the adult population. We aimed to address this point and to provide a full characterization of MIDANs in this population.
Methods
UNASSIGNED
We retrospectively included for observational study adults (≥16 years of age) with genetically diagnosed MID between 2000 and 2020 in our tertiary care academic centre when they had a chronic kidney disease (CKD) evaluation. MIDANs were ascertained by CKD occurring in MIDs. The phenotypic, biological, histopathological and genotypic characteristics were recorded from the medical charts.
Results
UNASSIGNED
We included 80 MID-affected adults and ascertained MIDANs in 28/80 (35%). Kidney diseases under the care of a nephrologist occurred in only 14/28 (50%) of the adults with MIDAN. MIDANs were tubulointerstitial nephropathy in 14/28 patients (50%) and glomerular diseases in 9/28 (32.1%). In adults with MID, MIDAN was negatively associated with higher albumin levels {odds ratio [OR] 0.79 [95% confidence interval (CI) 0.67-0.95]} and vision abnormalities [OR 0.17 (95% CI 0.03-0.94)] and positively associated with hypertension [OR 4.23 (95% CI 1.04-17.17)].
Conclusion
UNASSIGNED
MIDANs are frequent among adult MIDs. They are mostly represented by tubulointerstitial nephropathy or glomerular disease. Vision abnormalities, hypertension and albumin levels were independently associated with MIDANs. Our results pave the way for prospective studies investigating the prevalence of MIDANs among undetermined kidney disease populations.
Identifiants
pubmed: 36726431
doi: 10.1093/ckj/sfac195
pii: sfac195
pmc: PMC9871853
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100-110Informations de copyright
© The Author(s) 2022. Published by Oxford University Press on behalf of the ERA.
Références
Pediatr Nephrol. 2021 Jan;36(1):9-17
pubmed: 31925537
Am J Kidney Dis. 2011 Nov;58(5):835-45
pubmed: 21715071
Nature. 1981 Apr 9;290(5806):457-65
pubmed: 7219534
Annu Rev Neurosci. 2008;31:91-123
pubmed: 18333761
Eur Neurol. 1998;39(1):9-15
pubmed: 9476718
Int J Biochem Cell Biol. 2013 Sep;45(9):2109-18
pubmed: 23806869
N Engl J Med. 2003 Jun 26;348(26):2656-68
pubmed: 12826641
Nat Rev Nephrol. 2016 May;12(5):267-80
pubmed: 26804019
Transplantation. 2018 Nov;102(11):1795-1814
pubmed: 30028786
PLoS Genet. 2017 Mar 7;13(3):e1006620
pubmed: 28267784
Hum Mutat. 2020 Dec;41(12):2028-2057
pubmed: 32906214
J Inherit Metab Dis. 2004;27(3):349-62
pubmed: 15190193
Ann Neurol. 2001 Aug;50(2):133-41
pubmed: 11506394
Kidney Int Rep. 2022 Jan 11;7(3):580-590
pubmed: 35257070
Clin Genet. 2020 Apr;97(4):628-633
pubmed: 31713837
Hypertension. 2020 Jul;76(1):121-132
pubmed: 32475319
Kidney Int. 2015 Mar;87(3):610-22
pubmed: 25207879
J Am Soc Nephrol. 2003 Aug;14(8):2099-108
pubmed: 12874464
Ann Neurol. 2015 May;77(5):753-9
pubmed: 25652200
Biochem Biophys Res Commun. 2015 Apr 10;459(3):353-60
pubmed: 25701779
Mol Genet Metab. 2016 Jul;118(3):178-184
pubmed: 27312126
J Am Soc Hypertens. 2009 Mar-Apr;3(2):80-3
pubmed: 20409949
Am J Physiol Renal Physiol. 2014 Feb 15;306(4):F367-78
pubmed: 24305473
Diabetologia. 2008 Sep;51(9):1664-70
pubmed: 18581092
Am J Hypertens. 2020 Aug 4;33(8):765-774
pubmed: 32179886
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027
pubmed: 30476213
Adv Chronic Kidney Dis. 2017 Mar;24(2):57-63
pubmed: 28284380
Ann Intern Med. 2009 May 5;150(9):604-12
pubmed: 19414839
Eur J Neurol. 2017 Feb;24(2):255-261
pubmed: 27869334
Pediatr Nephrol. 2005 Sep;20(9):1299-305
pubmed: 15977024
Annu Rev Cell Biol. 1988;4:289-333
pubmed: 2461720
Am J Clin Nutr. 2010 Dec;92(6):1369-77
pubmed: 20962155
J Med Genet. 2017 Feb;54(2):73-83
pubmed: 27450679
Science. 1998 Aug 28;281(5381):1309-12
pubmed: 9721092
J Am Soc Nephrol. 1997 Jul;8(7):1118-24
pubmed: 9219161
Trends Genet. 1997 Nov;13(11):450-5
pubmed: 9385842
Am J Physiol Renal Physiol. 2019 Nov 1;317(5):F1142-F1153
pubmed: 31461348
Kidney Int. 2001 Apr;59(4):1236-43
pubmed: 11260383
Am J Physiol Renal Physiol. 2013 Aug 15;305(4):F520-31
pubmed: 23761667
Genet Med. 2015 Sep;17(9):689-701
pubmed: 25503498
Physiol Rev. 1986 Apr;66(2):469-97
pubmed: 2938198
Ann Intern Med. 2001 May 1;134(9 Pt 1):721-8
pubmed: 11329229