Skip to main content

Advertisement

Log in

Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation

  • Letter to the Editor
  • Published:
Urolithiasis Aims and scope Submit manuscript

    We’re sorry, something doesn't seem to be working properly.

    Please try refreshing the page. If that doesn't work, please contact support so we can address the problem.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Lightowlers RN, Taylor RW, Turnbull DM (2015) Mutations causing mitochondrial disease: what is new and what challenges remain? Science 349:1494–1499. https://doi.org/10.1126/science.aac7516

    Article  PubMed  CAS  Google Scholar 

  2. DiMauro S, Schon EA, Carelli V, Hirano M (2013) The clinical maze of mitochondrial neurology. Nat Rev Neurol 9:429–444. https://doi.org/10.1038/nrneurol.2013.126

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  3. Emma F, Montini G, Parikh SM, Salviati L (2016) Mitochondrial dysfunction in inherited renal disease and acute kidney injury. Nat Rev Nephrol 12:267–280. https://doi.org/10.1038/nrneph.2015.214

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  4. Emma F, Bertini E, Salviati L, Montini G (2012) Renal involvement in mitochondrial cytopathies. Pediatr Nephrol Berl Ger 27:539–550. https://doi.org/10.1007/s00467-011-1926-6

    Article  Google Scholar 

  5. Pickett SJ, Grady JP, Ng YS et al (2018) Phenotypic heterogeneity in m.3243A>G mitochondrial disease: the role of nuclear factors. Ann Clin Transl Neurol 5:333–345. https://doi.org/10.1002/acn3.532

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  6. Mancuso M, Orsucci D, Angelini C et al (2014) The m.3243A >G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 261:504–510. https://doi.org/10.1007/s00415-013-7225-3

    Article  PubMed  CAS  Google Scholar 

  7. Hotta O, Inoue CN, Miyabayashi S et al (2001) Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation. Kidney Int 59:1236–1243. https://doi.org/10.1046/j.1523-1755.2001.0590041236.x

    Article  PubMed  CAS  Google Scholar 

  8. Sproule DM, Kaufmann P (2008) Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann NY Acad Sci 1142:133–158. https://doi.org/10.1196/annals.1444.011

    Article  PubMed  CAS  Google Scholar 

  9. Gafni RI, Brahim JS, Andreopoulou P et al (2012) Daily parathyroid hormone 1-34 replacement therapy for hypoparathyroidism induces marked changes in bone turnover and structure. J Bone Miner Res 27:1811–1820. https://doi.org/10.1002/jbmr.1627

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Miller PD, Bilezikian JP, Diaz-Curiel M et al (2009) Occurrence of hypercalciuria in patients with osteoporosis treated with teriparatide. J Clin Endocrinol Metab. https://doi.org/10.1210/jc.2006-2439

    Article  PubMed  PubMed Central  Google Scholar 

  11. Chow J, Rahman J, Achermann JC et al (2017) Mitochondrial disease and endocrine dysfunction. Nat Rev Endocrinol 13:92–104. https://doi.org/10.1038/nrendo.2016.151

    Article  PubMed  CAS  Google Scholar 

  12. Tanaka K, Takada Y, Matsunaka T et al (2000) Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patient with an A3243G mutation of the mitochondrial DNA. Intern Med Tokyo Jpn 39:249–252

    Article  CAS  Google Scholar 

  13. O’Toole JF (2014) Renal manifestations of genetic mitochondrial disease. Int J Nephrol Renov Dis 7:57–67. https://doi.org/10.2147/IJNRD.S37887

    Article  CAS  Google Scholar 

  14. Nota B, Struys EA, Pop A et al (2013) Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined d-2- and l-2-hydroxyglutaric aciduria. Am J Hum Genet 92:627–631. https://doi.org/10.1016/j.ajhg.2013.03.009

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  15. Gafni RI, Langman CB, Guthrie LC et al Hypocitraturia is an untoward side effect of synthetic human parathyroid hormone (hPTH) 1-34 therapy in hypoparathyroidism that may increase renal morbidity. J Bone Miner Res 0: https://doi.org/10.1002/jbmr.3480

    Article  CAS  Google Scholar 

  16. Gambaro G, Vezzoli G, Casari G et al (2004) Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. Am J Kidney Dis 44:963–986

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to P. M. Ferraro.

Ethics declarations

Conflict of interest

Nothing to disclose.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or Italian national research committee and with the 1964 Helsinki Declaration and its later amendments, or comparable ethical standards.

Informed consent

Informed consent was obtained from all individuals included in the study.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Bargagli, M., Primiano, G., Primiano, A. et al. Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation. Urolithiasis 47, 489–492 (2019). https://doi.org/10.1007/s00240-018-1087-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00240-018-1087-1

Navigation