The article deals with severe hereditary disease – hepatolenticular degeneration (Wilson–Konovalov disease). Hepato-lenticular degeneration is a monogenic autosomal recessive genetic disorder. Pathogenetically, it is a genetic disorder of copper metabolism when copper accumulates in excessive amounts in target organs, primarily in the liver. More commonly it manifests at young age and, when untreated, progresses rapidly to death. At the same time, hepatolenticular degeneration is one of a few of hereditary disease for which an effective pathogenetic therapy with copper-eliminating medications has been developed to reduce the amount of dietary copper and to remove its excess from the body. The risk factors of unfavourable type of decease development are: the severity of clinical aspects at the time of diag-nostics in neurological stage, period of the delay of the copper-eliminate therapy prescription and the degree of mind disorder. The prognostication on hepatolenticular degeneration depends on the duration of the decease, time of the therapy beginning and the compliance to it.We report about two clinical observations of hepatolenticular degeneration, demonstrating the necessity to use the full complex of clinical-laboratorial and instrumental analysis in all cases of developing motor extrapyramidal defects, combined with psychiatric disorders and pathology of internal organs. This work proved that it is necessary to evaluate all symptoms in the dynamics of disease course and that symptoms signaling about pathology of copper metabolism should not be ignored, and paying attention only to some of the indicants is not advised.
hepatolenticular degeneration, clinic
1. AsanovAU, SokolovAA, VolginaSY, GoryachevaLG, GustovAV, Ivanova-SmplenskayaIА, KopishinskayaSV, NovikoPV, YablonskayaMI, PoleshukVV, PolyakovAV,RosinovaTP, KhavkanAI (2014). Federal Clinic Guidelines on Diagnostics and Treatment Wilson - Konovalov’s Dis-ease [Federal’nye klinicheskie rekomendacii po diagnos-tike i lecheniju bolezni Vil’sona - Konovalova (GLD)], 71.
2. VoloshinaNP, Voloshin-GaponovIK, VazhnovaEA(2015). Algorithm of diagnostics and case management of patients with Wilson - Konovalov disease [Algoritm diagnostiki i vedenija pacientov s bolezn’ju Vil’sona - Kon-ovalova]. Ukrainskij vestnik psihonevrologii, 82 (23), 23-27.
3. PolischukVV, FedotovaEU, Ivanova-SmolenskayaIA (2013). The case of hepatolenticular degeneration with neurologic form debut after 45 years old age [Sluchaj gepatolentikuljarnoj degeneracii s debjutom nevrolog-icheskoj formy posle 45 let]. Novosti mediciny i farmacii, (458), 39-42.
4. PonomarevVV (2010). Wilson - Konovalov disease: «The Great Chameleon [Bolezn’ Vil’sona - Konovalova «velikij hameleon»]. Mezhdunarodnyj nevrologicheskij zhurnal, (3), 161-165.
5. StepanovYM, KononovIN, BudzakIY, PtushkinaDA (2009). Hepatolenticular degeneration (Westphal - Wil-son - Konovalov disease): case report [Gepatolentikuljar-naja degeneracija (Bolezn’ Vestfalja - Vil’sona - Konovalo-va): sluchaj iz praktiki]. Liki, (6), 38-41.
6. Chetkina GS, PotapovAS, Tsiryulnikova OM, Senya-kovich VM, Tumanova EL (2011). Children with Wilson disease: variants of manifestation and difficulties in early diagnostics [Bolezn’ Vil’sona u detej: varianty manifestacii i trudnosti rannej diagnostiki]. Voprosy diagnostiki v pedi-atrii, (3), vypusk 1, 41-47
7. CartaМ, MuraG, SarbelloО, FarinaG, DemeliaL(2012). Quality of life and psychiatric symptoms in Wilson’s disease: The relevance of bipolar disorders clinical practice. Epidemiology in Mental Health, 8, 102-109.
8. FerenciP (2014). Phenotype - genotype correlations in patients with Wilson’s disease. Division of Gastroenterology and Hepatology Viena Austria, 1315, 1-5; doi 10. 1111/nuas. 12340.
9. KrstiD, AntonijeviJ., SpiriZ (2014).Atypical case of Wilson’s disease with psychotic onset, low 24 hour urine copper and the absence of Kayser - Fleischer rings. Vojnosanit Pregl, 71(12), 1156-1158.
10. MollerLB, HornN, JoppesenTD, VissingJ, Wi-brandF, JennumР, OttР (2011).Clinical presentation and mutations in Danish patients with Wilson Disease, European Journal Human Genetics, (19), 935-941; http://dx.doi.org/10.1038/ejhg.2011.80.
11. Schmitt de BemR, AraujoD, MiticoМ, ReisЕ,WerneckL,. GhizoniН (2011). Wilson’s disease in South-ern Brazil: A 40 year follow-up study. Clinics, 66, 411-416.
12. XuP, LuZ, WangX, DosherB, ZhouJ, ZhouY(2010).Category and perceptual learning in subjects with treated Wilson’s disease. PLoS ONE, (5), Article ID: c 96355 http://dx.doi.org/10.1371|journal.p one 0009635.
