Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature
- PMID: 22909780
- DOI: 10.5414/CN107063
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature
Abstract
Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS.
Similar articles
-
Kidney involvement in MELAS syndrome: Description of 2 cases.Med Clin (Barc). 2017 Apr 21;148(8):357-361. doi: 10.1016/j.medcli.2017.01.029. Epub 2017 Mar 7. Med Clin (Barc). 2017. PMID: 28283275 English, Spanish.
-
MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.J Neurol Sci. 2010 Sep 15;296(1-2):101-3. doi: 10.1016/j.jns.2010.06.029. Epub 2010 Jul 22. J Neurol Sci. 2010. PMID: 20655066
-
Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report.Neurol Neurochir Pol. 2014;48(2):150-3. doi: 10.1016/j.pjnns.2013.12.007. Epub 2014 Jan 23. Neurol Neurochir Pol. 2014. PMID: 24821643
-
Renal manifestations in adults with mitochondrial disease from the mtDNA m.3243A>G pathogenic variant.Nefrologia (Engl Ed). 2023 Dec;43 Suppl 2:1-7. doi: 10.1016/j.nefroe.2024.01.017. Nefrologia (Engl Ed). 2023. PMID: 38355238 Review.
-
[Maternally inherited diabetes mellitus, deafness, chronic progressive external ophthalmoplegia and myopathy as the result of A3243G mutation of mtDNA].Orv Hetil. 2008 Aug 24;149(34):1593-8. doi: 10.1556/OH.2008.28398. Orv Hetil. 2008. PMID: 18708313 Review. Hungarian.
Cited by
-
A MELAS Patient Developing Fatal Acute Renal Failure with Lactic Acidosis and Rhabdomyolysis.Intern Med. 2020 Nov 1;59(21):2773-2776. doi: 10.2169/internalmedicine.4922-20. Epub 2020 Jul 7. Intern Med. 2020. PMID: 32641653 Free PMC article.
-
Mitochondrial dysfunction in inherited renal disease and acute kidney injury.Nat Rev Nephrol. 2016 May;12(5):267-80. doi: 10.1038/nrneph.2015.214. Epub 2016 Jan 25. Nat Rev Nephrol. 2016. PMID: 26804019 Free PMC article. Review.
-
Incidental finding of MELAS in a young woman with decompensated heart failure and end stage kidney disease: a case report.Eur Heart J Case Rep. 2024 Dec 24;9(1):ytae690. doi: 10.1093/ehjcr/ytae690. eCollection 2025 Jan. Eur Heart J Case Rep. 2024. PMID: 39802055 Free PMC article.
-
Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report.CEN Case Rep. 2021 May;10(2):220-225. doi: 10.1007/s13730-020-00547-w. Epub 2020 Oct 30. CEN Case Rep. 2021. PMID: 33125665 Free PMC article.
-
Renal manifestations of primary mitochondrial disorders.Biomed Rep. 2017 May;6(5):487-494. doi: 10.3892/br.2017.892. Epub 2017 Apr 12. Biomed Rep. 2017. PMID: 28515908 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials