Хвороба Вільсона—Коновалова: гострий початок, перебіг, діагностика та лікування (клінічний випадок)

Abstract

The article presents information on the main etiology and pathogenesis of Wilson–Konovalov disease, as hepato-lenticular degeneration associated with excessive accumulation of copper in body tissues due to an inherited autosomal recessive defect of a protein that transports copper. A rare case of the onset and course of the disease in a patient who was examined and treated at the Ivano-Frankivsk Regional Children's Clinical Hospital is described. The main focus is on the acute, atypical onset of the disease, in particular the signs of severe intoxication syndrome caused by manifestations of hepatic encephalopathy, steroid-induced diabetes, anemia of complex genesis, coronavirus disease, pyoderma. The difficulties of diagnosing the disease against the background of delayed manifestation of the main pathognomonic manifestations and the absence of reliable signs of the disease are shown. The clinical picture of this clinical case, features of the course are described, the indicators of the main clinical and laboratory research methods are given, the results of instrumental diagnostic methods and genetic examination methods are shown, both in laboratories of Ukraine and abroad, which confirmed the diagnosis of Wilson–Konovalov disease. The treatment of this clinical case is described in detail not only at the local level but also in the main leading research institution of Ukraine «OHMATDYT» and «National Institute of Surgery and Transplantology named after O.O. Shalimov». Recommendations for further observation and treatment of the child at the place of residence after orthotopic transplantation of the left lobe of the liver from a living family donor. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Wilson-Konovalov disease, etiology, pathogenesis, clinical picture, diagnosis, examination, treatment.