FEATURES OF LIVER DAMAGE IN WILSON-KONOVALOV DISEASE IN CHILDREN

Authors

  • MURATKHOZHAYEVA Akida Valievna
  • KHAMDAMOVA Yokuthon Sirozhiddin qizi

Keywords:

Wilson-Konovalov disease, diagnosis, clinical course, children, hepatobiliary system involvement. МУРАТХОЖАЕВА Акида Валиевна

Abstract

This study presents the results of an examination of patients with Wilson-Konovalov disease, a rare autosomal recessive disorder characterized by copper accumulation in the liver, brain, and other organs. Biochemical parameters and instrumental diagnostic methods were evaluated in accordance with international guidelines, which require further confirmation of the diagnosis through molecular genetic testing. Specific ultrasound markers of liver damage were identified, which determine the clinical presentation of this disease in children.

References

Bayazutdinova G.M., Shchagina O.A., Polyakov A.V. Mutation c.3207C>A in the ATP7B gene – the most common cause of hepatolenticular degeneration in Russia: frequency and reason for prevalence. // Medical Genetics. – 2018. – No. 17(4). – P. 25–30. (in Russ).

Volynets G.V., Evlyukhina N.N., Potapov A.S. Relationship between the degree of liver function impairment and its morphological changes in Wilson’s disease in children. // Experimental and Clinical Gastroenterology. – 2015. – No. 5 (117). – P. 82. (in Russ).

Gerner E.A., Nazarov V.D., Fedorova T.F. Clinical, laboratory, and molecular genetic diagnosis of Wilson-Konovalov disease. // Russian Neurological Journal. – 2019. – No. 24(3). – P. 10–18. (in Russ).

Zhalsanova I.Zh. A comprehensive approach to the diagnosis of Wilson-Konovalov disease in the Siberian region / Zhalsanova I.Zh., Fonova E.A., Sivtsev A.A. et al. // Medical Genetics. – 2021. – No. 20(10). – P. 53–56. (in Russ).

Skryabin N.A. Investigation of the ATP7B gene using massive parallel sequencing in patients with Wilson-Konovalov disease / Skryabin N.A., Vasilieva O.Yu., Sivtsev A.A. et al. // Medical Genetics. – 2020. – No. 19(7). – P. 97–98. (in Russ).

Tuluzanovskaya I.G. Wilson–Konovalov disease: intrafamilial clinical polymorphism / Tuluzanovskaya I.G., Zhuchenko N.A., Balashova M.S. et al. // Pediatrics named after G.N. Speransky. – 2017. – No. 96 (6). – P. 215–216. (in Russ).

Ahmad A., Torrazza-Perez E., Schilsky M.L. Liver transplantation for Wilson disease // Handbook of Clinical Neurology. – 2017. – Vol. 142. – P. 193–204. (in Russ).

Członkowska A., Litwin T., Dusek P. et al. Nature Reviews Disease Primers article: Wilson disease. // Nature Reviews Disease Primers. – 2019. – Vol. 4(1). – P. 21. (in Russ).

Gong A., Leitold S., Uhanova J., Minuk G.Y. Non-Wilson’s Disease-Associated Hypoceruloplasminemia // Journal of Clinical and Experimental Hepatology. – 2020. – Vol. 10(4). – P. 284–289. (in Russ).

Paternostro R., Pfeiffenberger J., Ferenci P. et al. Non-invasive diagnosis of cirrhosis and long-term disease monitoring by transient elastography in patients with Wilson disease // Liver International. – 2020. – Vol. 40. – P. 894–904. (in Russ).

Published

2025-08-09