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Antinuclear antibodies in children with Wilson’s disease

https://doi.org/10.53529/2500-1175-2024-1-48-52

About the Authors

O. V. Kurbatova
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



A. A. Zhuzhula
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



S. V. Lapin
Federal State Budgetary Educational Institution of Higher Education PSPbSMU named after acad. I. P. Pavlova Ministry of Health of Russia
Russian Federation

St. Petersburg



M. A. Snovskaya
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



D. I. Kozlova
Federal State Budgetary Healthcare Institution St. Petersburg Clinical Hospital 1 of the Russian Academy of Sciences; Federal State Budgetary Institution of Science Institute of Evolutionary Physiology and Biochemistry named after I. M. Sechenov Russian Academy of Sciences
Russian Federation

St. Petersburg



S. V. Petrichuk
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



D. G. Kuptsova
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



D. A. Kuznetsova
Federal State Budgetary Educational Institution of Higher Education PSPbSMU named after acad. I. P. Pavlova Ministry of Health of Russia
Russian Federation

St. Petersburg



G. B. Movsisyan
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



A. D. Komarova
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



T. V. Radygina
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



A. B. Guslev
Federal State Budgetary Educational Institution of Higher Education PSPbSMU named after acad. I. P. Pavlova Ministry of Health of Russia; Federal State Budgetary Healthcare Institution St. Petersburg Clinical Hospital 1 of the Russian Academy of Sciences
Russian Federation

St. Petersburg



I. V. Kholopova
Federal State Budgetary Educational Institution of Higher Education PSPbSMU named after acad. I. P. Pavlova Ministry of Health of Russia
Russian Federation

St. Petersburg



E. L. Semikina
National Medical Research Center for Children’s Health; Sechenov First Moscow State Medical University
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



S. G. Makarova
National Medical Research Center for Children’s Health; Lomonosov Moscow State University
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



A. S. Potapov
National Medical Research Center for Children’s Health; Sechenov First Moscow State Medical University
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



A. P. Fisenko
National Medical Research Center for Children’s Health
Russian Federation

119991;  Lomonosovsky Prospekt, 2, p. 1; Moscow



References

1. Fisenko AP, Surkov AN, Potapov AS. Wilson’s disease in children. M: National Medical Research Center for Children’s Health, 2019. — P. 84. (In Russ.)

2. Lucena-Valera A, Ruz-Zafra P, Ampuero J. Wilson’s disease: overview. Enfermedad de Wilson. Med Clin (Barc). 2023; 160 (6): 261–267. doi: 10.1016/j.medcli.2022.12.016.

3. Lu ZK et al. Phenotypes and ATP7B gene variants in 316 children with Wilson disease. Zhonghua Er Ke Za Zhi. 2022; 60 (4): 317–322. doi: 10.3760/cma.j.cn112140-20210827-00708.

4. Baiazutdinova GM, Shchagina OA, Poliakov AV. The study of common mutation p.H1069Q in АТР7В gene in Russian WD-patients. Medical Genetics. 2018; 17 (4): 25–30. (In Russ.) URL: https://www.medgen-journal.ru/jour/article/view/429?locale=ru_RU.

5. Postrigan AE, Zhalsanova IZh, Fonova EA, Skryabin NA. Modifier genes as the cause of clinical polymorphism of Wilson — Konovalov disease. Genetics. 2021; 57 (5): 516–527. (In Russ.) doi: 10.31857/S001667582105009X.

6. Zimmerman JS. Wilson’s disease — hepatocerebral dystrophy. Clinical medicine. 2017; 4: 310–315. (In Russ.) URL: https://cyberleninka.ru/article/n/bolezn-vilsona-gepatotserebralnaya-distrofiya.

7. Idrisova SSH, Shaimardanova GM, Tuleeva AI, Abdraimova SO, Kuzembaeva KU. Difficulties in diagnosing Konovalov — Wilson disease. Clinical Medicine of Kazakhstan. 2014; 4 (34): 70–74. (In Russ.) URL: https://cyberleninka.ru/article/n/trudnosti-diagnostiki-bolezni-konovalova-vilsona.

8. Scheiber IF, Brůha R, Dušek P. Pathogenesis of Wilson disease. Handb Clin Neurol. 2017; 142: 43–55. doi: 10.1016/B978-0-444-63625-6.00005-7.

9. Kurbatova OV, Kuptsova DG, Bezrukavnikova LM, Radygina TV, Movsisyan GB, Anushenko AO, Komarova AD, Potapov AS, Petrichuk SV, Fisenko AP. Features of the immune status in children with Wilson — Konovalov disease at different stages of liver fibrosis. Russian Immunological Journal. 2022; 25 (4): 453–460. (In Russ.) doi: 10.46235/1028-7221-1193-FOI

10. Kurbatova OV, Petrichuk SV, Movsisyan GB, Kuptsova DG, Radygina TV, Anushenko AO, Semikina EL, Potapov AS. The role of small populations of lymphocytes in the formation of liver fibrosis in children with glycogen storage disease. Russian Immunological Journal. 2023; 26 (3): 337–344. (In Russ.) doi: 10.46235/1028-7221-10013-ROM.

11. Roehlen N, Crouchet E, Baumert TF. Liver fibrosis: mechanistic concepts and therapeutic perspectives. Cells. 2020; 9 (4): 875. doi: 10.3390/cells9040875.

12. Kurbatova O, Zakirov R, Surkov A, Nikitin A, Samokhina I, Freidlin E, Potapov A, Petrichuk S, Level of serum cytokines at different stages of liver fibrosis in children with hepatic forms of glycogen storage disease. Clinical laboratory diagnostics. 2016; 61 (9): 537. (In Russ.)

13. Kirchmeyer M, Gaigneaux A, Servais FA, Arslanow A, Casper M, Krawczyk M, Lammert F, Behrmann I. Altered profiles of circulating cytokines in chronic liver diseases (NAFLD/HCC): Impact of the PNPLA3I148M risk allele. Hepatol Commun. 2023 Nov 22; 7 (12): e0306. URL: https://www.researchgate.net/publication/376008960_Altered_profiles_of_circulating_cytokines_in_chronic_liver_diseases_NAFLDHCC_Impact_of_the_PNPLA3I148M_risk_allele. PMID: 38015590; PMCID: PMC10667005.

14. Socha P, Janczyk W, Dhawan A et al. Wilson’s Disease in Children: A Position Paperby the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2018 Feb; 66 (2): 334–344. doi: 10.1097/MPG.0000000000001787.

15. Clinical recommendations, URL: https://cr.minzdrav.gov.ru/schema/376_2. (In Russ.)

16. Eremina EYu. Wilson — Konovalov disease. Bulletin of modern clinical medicine. 2011; 1: 38–46. (In Russ.)

17. Kulebina EA, Surkov AN, Kulikov KA, Potapov AS, Bessonov EE. Validation of transient elastography indicators for assessing the stage of liver fibrosis in children. Treating Doctor. 2020; 8: 57–60. (In Russ.). URL: https://www.lvrach.ru/2020/08/15437658.

18. den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016 Jun; 37 (6): 564–569. doi: 10.1002/humu.22981.

19. Członkowska A, Gromadzka G, Chabik G. Monozygotic female twins discordant for phenotype of Wilson’s disease. Mov Disord. 2009 May 15; 24 (7): 1066–1069. doi: 10.1002/mds.22474.

20. Kurbatova OV, Petrichuk SV, Kuptsova DG, Radygina TV, Semikina EL, Potapov AS. Age-related features of the subpopulation composition and metabolism of lymphocytes in children with Wilson — Konovalov disease. Kremlin Medicine Clinical Bulletin. 2023 Jun; 2: 5–11. (In Russ.) doi: 10.48612/cgma/a5rx-evxd-xkk9.

21. Sandler YuG, Matveeva YuA, Vinnitskaya EV, Gendrikson LN, Keyan VA. Possibilities of using antihypoxic and antioxidant therapy for non-alcoholic liver disease, Breast Cancer. Medical Review. 2016; 24 (26): 1815–1818. (In Russ.) https://www.rmj.ru/articles/gastroenterologiya/Vozmoghnosti_primeneniya_antigipoksantnoy_i_antioksidantnoy_terapii_pri_nealkogolynoy_bolezni_pecheni/#ixzz8L5e5zMkT.


Review

For citations:


Kurbatova O.V., Zhuzhula A.A., Lapin S.V., Snovskaya M.A., Kozlova D.I., Petrichuk S.V., Kuptsova D.G., Kuznetsova D.A., Movsisyan G.B., Komarova A.D., Radygina T.V., Guslev A.B., Kholopova I.V., Semikina E.L., Makarova S.G., Potapov A.S., Fisenko A.P. Antinuclear antibodies in children with Wilson’s disease. Allergology and Immunology in Paediatrics. 2024;(1):48-52. https://doi.org/10.53529/2500-1175-2024-1-48-52

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ISSN 2500-1175 (Print)
ISSN 2712-7958 (Online)