Long-term renal outcome in methylmalonic acidemia in adolescents and adults.
Chronic kidney disease
Estimated glomerular filtration rate
Measured glomerular filtration rate
Methylmalonic acidemia
Tubulopathy
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
13 05 2021
13 05 2021
Historique:
received:
28
12
2020
accepted:
04
05
2021
entrez:
14
5
2021
pubmed:
15
5
2021
medline:
29
6
2021
Statut:
epublish
Résumé
Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and biological characteristics of long-term CKD in MMA adolescent and adult patients. In this retrospective study, we included MMA patients older than 13 years who had not received kidney and/or liver transplantation. We explored tubular functions, with special attention to proximal tubular function. We measured glomerular filtration rate (mGFR) by iohexol clearance and compared it to estimated glomerular filtration rate (eGFR) by Schwartz formula and CKD-EPI. Thirteen patients were included (M/F = 5/8). Median age was 24 years (13 to 32). Median mGFR was 57 mL/min/1.73 m CKD is a common complication of the MMA. Usual equations overestimate GFR. Therefore, mGFR should be performed to inform therapeutic decisions such as dialysis and/or transplantation. Mild evidence of proximal tubular dysfunction was found in only one patient, suggesting that other mechanisms are involved.
Sections du résumé
BACKGROUND
Chronic kidney disease (CKD) is one of the main long-term prognosis factors in methylmalonic acidemia (MMA), a rare disease of propionate catabolism. Our objective was to precisely address the clinical and biological characteristics of long-term CKD in MMA adolescent and adult patients.
PATIENTS AND METHODS
In this retrospective study, we included MMA patients older than 13 years who had not received kidney and/or liver transplantation. We explored tubular functions, with special attention to proximal tubular function. We measured glomerular filtration rate (mGFR) by iohexol clearance and compared it to estimated glomerular filtration rate (eGFR) by Schwartz formula and CKD-EPI.
RESULTS
Thirteen patients were included (M/F = 5/8). Median age was 24 years (13 to 32). Median mGFR was 57 mL/min/1.73 m
CONCLUSION
CKD is a common complication of the MMA. Usual equations overestimate GFR. Therefore, mGFR should be performed to inform therapeutic decisions such as dialysis and/or transplantation. Mild evidence of proximal tubular dysfunction was found in only one patient, suggesting that other mechanisms are involved.
Identifiants
pubmed: 33985557
doi: 10.1186/s13023-021-01851-z
pii: 10.1186/s13023-021-01851-z
pmc: PMC8120835
doi:
Substances chimiques
Creatinine
AYI8EX34EU
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
220Références
Pediatr Radiol. 1985;15(1):38-43
pubmed: 3881724
J Inherit Metab Dis. 2008 Feb;31(1):35-43
pubmed: 17846917
Genomics. 1989 Feb;4(2):198-205
pubmed: 2567699
J Inherit Metab Dis. 2009 Oct;32(5):630
pubmed: 19642010
Br Med J. 1968 Nov 30;4(5630):550-2
pubmed: 5722316
Mol Genet Metab. 2009 Jul;97(3):172-8
pubmed: 19375370
Eur J Pediatr. 1989 Jan;148(4):344-8
pubmed: 2707280
Eur J Pediatr. 1990 Dec;150(2):115-8
pubmed: 2279506
Pediatrics. 2012 Jun;129(6):e1541-51
pubmed: 22614770
Hum Mol Genet. 2015 Dec 15;24(24):7049-59
pubmed: 26420839
J Biol Chem. 2003 Dec 26;278(52):52909-13
pubmed: 14555645
Genet Med. 2013 Dec;15(12):990-6
pubmed: 23639900
Orphanet J Rare Dis. 2014 Sep 02;9:130
pubmed: 25205257
J Clin Invest. 1980 Mar;65(3):690-8
pubmed: 6101601
Orphanet J Rare Dis. 2016 Apr 22;11:47
pubmed: 27102039
Pediatr Res. 2007 Aug;62(2):225-30
pubmed: 17597648
J Inherit Metab Dis. 2005;28(3):415-23
pubmed: 15868474
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S199-203
pubmed: 20449661
J Inherit Metab Dis. 2008 Jun;31(3):350-60
pubmed: 18563633
Pediatr Nephrol. 2013 Feb;28(2):227-35
pubmed: 22814947
J Neurogenet. 1985 Feb;2(1):31-9
pubmed: 4020528
FASEB J. 2009 Apr;23(4):1252-61
pubmed: 19088183
J Inherit Metab Dis. 2020 Mar;43(2):234-243
pubmed: 31525265
Kidney Int. 2017 Jan;91(1):24-33
pubmed: 28003083
Orphanet J Rare Dis. 2020 Jun 19;15(1):154
pubmed: 32560656
J Am Soc Nephrol. 2005 Mar;16(3):763-73
pubmed: 15659562
Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7
pubmed: 23898205
Br J Clin Pharmacol. 2019 Dec;85(12):2886-2890
pubmed: 31026083
Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10
pubmed: 23751327
Ann Intern Med. 2009 May 5;150(9):604-12
pubmed: 19414839
Kidney Int Rep. 2017 Apr 28;2(5):956-960
pubmed: 29270502
Pediatr Nephrol. 2014 Nov;29(11):2139-46
pubmed: 24865477
Nat Commun. 2020 Feb 20;11(1):970
pubmed: 32080200
J Am Soc Nephrol. 2009 Mar;20(3):629-37
pubmed: 19158356
J Neuroophthalmol. 2011 Dec;31(4):344-6
pubmed: 21873889
J Inherit Metab Dis. 2009 Aug;32(4):523-33
pubmed: 19629744
Orphanet J Rare Dis. 2013 Sep 23;8:148
pubmed: 24059531
Eur J Pediatr. 2011 Feb;170(2):241-5
pubmed: 20924605
Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6
pubmed: 18480301