Clinical case of Wilson–Konovalov disease in 34-year-old male patient


DOI: https://dx.doi.org/10.18565/therapy.2020.4.152-158

Alieva A.M., Almazova I.I., Reznik E.V., Baykova I.E., Pinchuk T.V., Rakhaev А.М., Protsenko, G.A., Nikitin I.G.

1) N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia, Moscow; 2) National Medical Research Center for therapy and preventive medicine of the Ministry of Healthcare of Russia, Moscow; 3) Main Bureau of medical and social expertise on Kabardino-Balkarian Republic of the Ministry of labor of Russia, Nalchik; 4) Central clinical hospital of the Russian Academy of Sciences (CCH RAS), Moscow
Wilson–Konovalov disease (synonyms – hepatolenticular degeneration, hepatocerebral dystrophy) is a chronic progressive hereditary disease that is transmitted by an autosomal recessive type. The basis of Wilson–Konovalov disease is a violation of copper metabolism, which leads to a violation of the removal of this trace element from the body and, as a result, its accumulation in tissues, which in turn leads to a combined lesion of parenchymal organs (primarily the liver) and the brain (mainly subcortical nuclei). We present a clinical case of Wilson–Konovalov disease in a 34-year-old patient, and the main stages of diagnosis and treatment of the patient are described.
Keywords: Wilson’s disease, ascites, portal hypertension, ceruloplasmin
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About the Autors

Amina M. Alieva, PhD, associate professor of the Department of hospital therapy No. 2 of the faculty of medicine of N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 1 Ostrovityaninova Str. Tel.: +7 (906) 733-08-31. E-mail: amisha_alieva@mail.ru
Ilda I. Almazova, doctor-teacher of National Medical Research Center for therapy and preventive medicine of the Ministry of Healthcare of Russia. Address: 101990, Moscow, 10 Petroverigsky Lane. Tel.: +7 (916) 903-94-83. E-mail: almazovai@rambler.ru
Elena V. Reznik, MD, professor of the Department of hospital therapy No. 2 of the faculty of medicine of N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 1 Ostrovityaninova Str. Tel.: +7 (916) 380-39-23. E-mail: elenaresnik@gmail.com
Irina E. Baykova, PhD, associate professor of the Department of hospital therapy No. 2 of the faculty of medicine of N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 1 Ostrovityaninova Str. Tel.: +7 (903) 149-85-53. E-mail: 1498553@mail.ru
Tatyana V. Pinchuk, PhD, associate professor of the Department of faculty therapy of the pediatric faculty of N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 1/1 Velozavodskaya Str. (build 15). Tel.: +7 (916) 174-78-74. E-mail: doktor2000@inbox.ru
Alik M. Rakhaev, MD, head of the expert staff of Main Bureau of medical and social expertise on Kabardino-Balkarian Republic of the Ministry of labor of Russia. Address: 360003, Nalchik, 131 B Tarchokova str. E-mail: alikrahaev@yandex.ru
Gulnara A. Protsenko, General practitioner of the highest qualification category, head of the 3rd therapeutic Department of Central clinical hospital of the Russian Academy of Sciences (CCH RAS). Address: 117593, 1a Litovsky boulevard. Tel.: +7 (916) 157-90-77. E-mail: G.protsenko@ckbran.ru
Igor G. Nikitin, MD, professor, head of the Department of hospital therapy No. 2 of the faculty of medicine of N.I. Pirogov Russian National Research Medical University of the Ministry of Healthcare of Russia. Address: 117997, Moscow, 1 Ostrovityaninova Str. Tel.: +7 (916) 161-57-27. E-mail: igor.nikitin.64@mail.ru

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