Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment
https://doi.org/10.17650/2222-8721-2018-8-3-51-57
Abstract
About the Authors
S. V. VlasenkoRussian Federation
6 Mayakovskogo St., Evpatoria 297412.
E. N. Ponomarenko
Russian Federation
22 Pobedy Prospekt, Evpatoria 297403.
G. M. Kushnir
Russian Federation
5/7 Lenina Bul’var, Simferopol 294006.
L. L. Korsunskaya
Russian Federation
5/7 Lenina Bul’var, Simferopol 294006.
N. V. Larina
Russian Federation
5/7 Lenina Bul’var, Simferopol 294006.
V. V. Shalanin
Russian Federation
5/7 Lenina Bul’var, Simferopol 294006.
N. I. Usulceva
Russian Federation
Build. 2, 25 Petrovka St., Moscow 107031.
References
1. Vel’tishchev E. Yu., Temin P. A. Hereditary diseases of the nervous system. Moscow: Meditsina, 1998. Pp. 346–368. (In Russ.).
2. Nikitina L. P., Gomboeva A. Ts., Solov’eva N. V., Kuznetsova N. S. Mitochondrial diseases. Part 1. Genetic apparatus of mitochondria. Zabaykal’skiy Meditsinskiy Vestnik = Zabaikalsky Medical Herald 2011;(1):134–9.(InRuss.).
3. Sukhorukov V. S. Proceedings on mitochondrial pathology. Moscow: Medpraktika-M, 2011. 288 p. (In Russ.).
4. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004;1658(1–2): 80–8. DOI: 10.1016/j.bbabio.2004.03.014. PMID: 15282178.
5. Pozdnyakov O. M., Babakova L. L., Gekht B. M. Mitochondrial cytopathy. Zhurnal nevrologii i psykhiatrii im. S. S. Korsakova = S. S. Korsakov Journal of Neurology and Psychiatry 2007;2(107):64–9. (In Russ.).
6. Evtushenko S. K., Morozova T. M., Moskalenko M. A. et al. Identification of mutations in a child with mitochondrial encephalomyopathy. Mezhdunarodnyy nevrologicheskiy zhurnal = International Neurological Journal 2010;3(33):26–9. (In Russ.).
7. Illarioshkin S. N. Algorithm how to diagnose mitochondrial encephalomyopathies. Atmosphere. Nervnye bolezni = Nervous Diseases 2007;(3):23–7. (In Russ.).
8. Illarioshkin S. N. DNA-diagnostics and medical genetic counselling. Moscow: MIA, 2004. 207 p. (In Russ.).
9. Mikhailova S. V., Zakharova E. Yu., Tsygankova P. G. et al. Clinical polymorphism of mitochondrial encephalomyopathies caused by mutations of the gamma polymerase gene. Rossiyskiy vestnik perinatologii i pediatrii = Russian Herald of Perinatology and Pediatrics 2012;4(2):51–61. (In Russ.).
10. Kearns T. P., Sayre G. P. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60(2):280–9. DOI: 10.1001/ archopht. 1958.00940080296016. PMID: 13558799.
11. Khambatta S., Nguyen D. L., Beckman T. J. et al. Kearns–Sayre syndrome: a case series of 35 adults and children. Int J General Med 2014;7:325–32. DOI: 10.2147/IJGM.S65560. PMID: 25061332.
12. DiMauro S., Hirano M. Mitochondrial DNA Deletion Syndromes. DOI: 10.1007/springerreference_100944. PMID: 20301382. In: GeneReviews® [Internet]. Eds.: Adam M. P., Ardinger H. H., Pagon R. A. et al. Seattle (WA): University of Washington, Seattle, 1993–2018. Available at: http://www.ncbi. nlm.nih.gov/books/NBK1203/.
13. Nikolaeva E. A., Novikov P. V. The pro blem of diagnosis and differential diagnosis of mitochondrial diseases in children. Pediatrics. Zhurnal im. G. N. Speranskogo = Journal named after G. N. Speransky 2014;(6):75–83. (In Russ.).
14. Yablonskaya M. I., Nikolaeva E. A., Shatalov P. A., Kharabadze M. N. Polymorphism of clinical manifestations of progressive mitochondrial encephalomyopathy associated with the mutation of the POLG1 gene. Rossiyskiy vestnik perinatologii I pediatrii = Russian Herald of Perinatology and Pediatrics 2016;(3):51–7. (In Russ.).
15. Ahmadian A., Ehh M., Hober S. Pyrosequencing: history, biochemistry and future. Clinica Chimica Acta 2006;336(1–2): 83–94. DOI: 10.1016/j.cccn.2005.04.038. PMID: 16165119.
16. Chinnery P. F., DiMauro S., Shanske S. et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364(9434):592–96.
17. Martikainen M. H., Chinnery P. F. Mitochondrial disease: mimics and chameleons. Pract Neurol 2015;15(6):424–35. DOI: 10.1136/practneurol-2015-001191. PMID: 26201977.
18. Sukhorukov V. S. To the d evelopment of rational bases of energy therapy. Ratsional’naya pharmakoterapiya = Ra tional Pharmacotherapy 2007;(2):40–7. (In Russ.).
19. Miles M. V., Miles L., Tang P. H. et al. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008;8(2): 70–80. DOI: 10.1016/j.mito.2008.01.003. PMID: 18313367.
20. Finsterer J., Bindu P. S. Therapeutic strategies for mitochondrial disorders. Pediatr Neurol 2015;52(3):302–13. DOI: 10.1016/j.pediatrneurol. 2014.06.023. PMID: 25701186.
21. Koga Y., Akita Y., Nishioka J. et al. MELAS and L-arginine therapy. Mitochondrion 2007;7(1–2):133–9. DOI: 10.1016/j.mito.2006.11.006. PMID: 17276739.
22. Federal guidelines on the use of medicines (formular system). Issue XVI. Moscow: Ekho, 2015. (In Russ.).
23. Rai P. K., Russell O. M., Lightowlers R. N., Turnbull D. M. Potential compounds for the treatment of mitochondrial disease. Br Med Bull 2015;116:5–18. DOI: 10.1093/bmb/ldv046. PMID: 26590387.
24. Ваmman М. М., Shipp J. R., Jiang J. Mechanical load increases muscle IGF-1 and androgen receptor mRNA concentrations in humans. Am J Physiol Endocrinol Metab 2001;280(3):383–90. DOI: 10.1152/ajpendo.2001.280.3.E383. PMID: 11171591.
25. Bermon S., Ferrari P., Bernard P. et al. Responses of total and free insulin-like growth factor-1 and insulinlike growth factor-1 binding protein-3 after resistance exercise and training in elderly subjects. Acta Physiol Scand 1999;165(1):51–6. DOI: 10.1046/j.1365-201x.1999.00471.x. PMID: 10072097.
26. Pizova N. V., Sokolov M. A., Izmailov I. A. Cellex in the treatment of patients with acute impairment of cerebral circulation: the proceedings of the Russian multicentre comparative open clinical examination. Zhurnal nevrologii i psykhiatrii im. S. S. Korsakova = S. S. Korsakov Journal of Neurology and Psychiatry 2014;(5):22–6. (In Russ.).
Review
For citations:
Vlasenko S.V., Ponomarenko E.N., Kushnir G.M., Korsunskaya L.L., Larina N.V., Shalanin V.V., Usulceva N.I. Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment. Neuromuscular Diseases. 2018;8(3):51-57. (In Russ.) https://doi.org/10.17650/2222-8721-2018-8-3-51-57