D.D. MUKHAMETOVA¹, D.V. ASMANOVA¹, A.R. ZAKIROVA¹, A.M. GALIEVA¹, P.I. LEVANOVA², A.A. KIRSHIN^2, 3, A.KH. ODINTSOVA²

¹Kazan State Medical University, Kazan

²Republic Clinical Hospital, Kazan

³Kazan (Volga Region) Federal University, Kazan

 Contact details:

Mukhametova D.D. — PhD (Medicine), Assistant Lecturer of the Department of Hospital Therapy

Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7 (843) 237-32-61, e-mail: muhdilyara@gmail.com

The article presents a clinical case of an orphan disease – Wilson’s disease, a genetically determined metabolic disorder of the microelement copper with its excessive accumulation in tissues and predominant damage to the liver and brain, as well as other organs. A distinctive feature of Wilson’s disease is the pronounced polymorphism of clinical manifestations, which causes difficulty in early diagnosis. In the absence of timely copper-eliminating therapy, the disease steadily progresses with decompensation of liver cirrhosis. In this case, the only radical treatment method is liver transplantation, after which copper metabolism in the body is restored, since the donor organ does not contain the genetic defect.

Key words: Wilson’s disease, copper metabolism, liver cirrhosis, liver transplantation.

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