Terapevticheskii arkhivTerapevticheskii arkhiv0040-36602309-5342LLC Obyedinennaya Redaktsiya31506Research ArticleWilson-Konovalov disease in 3 sisters: A radical change in prognosis if timely diagnosedRozinaT Palrozin@yandex.ruIgnatovaT M-Solov'evaO V-15042014864808410042020Copyright © 2014, Consilium Medicum2014Wilson-Konovalov disease is a rare autosomal recessive genetic disorder in which copper accumulates in the liver, brain and other target organs. The paper describes a family case of the abdominal form of the disease in three sisters, the eldest of them died from fulminant liver failure at the age of 18 years. The second sister aged 16 years was diagnosed as having the disease at the stage of decompensated liver cirrhosis; her treatment with D-penicillamine resulted in complete disease remission. The youngest sister was diagnosed with the disease at the preclinical stage, which could expect its good prognosis. However, the patient’s refusal of treatment led to death from liver failure. This case demonstrates the importance of timely diagnosis and the possibility of dramatic improvement in prognosis even at the stage of decompensated liver cirrhosis.Wilson-Konovalov diseasecopperliver cirrhosistreatmentprognosisболезнь Вильсона-Коноваловамедьцирроз печенилечениепрогноз[Wilson S.A.K. Hepatolenticular degeneration and cirrosis. Brain 1912; 34:295-509.][Wilson S.A.K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Lancet 1912; 1:1115-1119.][Коновалов Н.В. Гепатоцеребральная дистрофия. М 1960.][Walshe J.M. Penicillamine, a new oral therapy for Wilson’s disease. Am J Med 1956; 21: 487-492.][Ferenci P. Wilson’s disease. Clinical Gastroenterology and Hepatology 2005; 3: 726-733.][Gitlin J.D. Wilson disease. Gastroenterology 2003; 125: 1868-1877.][Gollan J.L., Gollan J.G. Wilson disease in 1998: genetic, diagnostic and therapeutic aspects. J Hepatol 1998; 28: 28-36.][Roberts E.A., Schilsky M.L. Diagnosis and treatment of Wilson disease: an update. Hepatology 2008; 47 (6): 2089-2111.][Steindl P., Ferenci P., Dienes H.P. et al. Wilson’s disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology 1997; 113: 212-218.][Brewer G.J., Yuzbasiyan-Gurcan V. Wilson disease. Medicine 1992; 71 (3): 139-164.][Gow P.J., Smallwood R.A., Angus P.W. et al. Diagnosis of Wilson’s disease: an experience over three decades. Gut 2000; 46: 415-419.][Розина Т.П., Рахимова О.Ю., Лопаткина Т.Н. Клиническая характеристика, течение и прогноз абдоминальной формы болезни Вильсона-Коновалова. Рос журн гастроэнтерол, гепатол, колопроктол 2005; 4: 5.][Berman D.H., Leventhal R.I., Gavaler J.S. et al. Clinical differentiation of fulminant Wilsonian hepatitis from other causes of hepatic failure. Gastroenterology 1991; 100: 1129-1134.][Kiss J.E., Berman D., Van Thiel D. Effective removal of copper by plasma exchange in fulminant Wilson’s disease. Transfusion 1998; 38: 327-331.][Sen S., Felldin M., Steiner C., Larsson B. Albumin dialysis and Molecular Adsorbents Recirculating system (MARS) for acute Wilson’s disease. Liver Transpl 2002; 8 (10): 962-967.][Korman J.D., Volenberg I., Balko J. et al. Pediatric and Adult Acute Liver Failure Study Groups, Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests, Hepatology 2008; 48: 1167-1174.][Merle U., Schaefer M., Ferenci P., Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study. Gut 2007; 56: 115-120.][Игнатова Т.М., Ильина Н.А., Потапова А.В., Юсов С.П., Попова И.В. Висцеральные проявления болезни Вильсона-Коновалова (анализ 22 наблюдений). Клин мед 1995; 6: 23-26.][Schilsky M.L. Diagnosis and treatment of Wilson’s disease. Pediatr Transplant 2002; 6: 15-19.][Lang C.J., Rabas-Kolominsky P., Engelhardt A. et al. Fatal deterioration of Wilson’s disease after institution of oral zinc therapy. Arch Neurol 1993; 50: 1007-1008.][Walshe J.M., Munro N.A. Zinc-induced deterioration in Wilson’s disease aborted by treatment with penicillamine, dimercaprol, and a novel zero copper diet. Arch Neurol 1995; 52: 10-11.]