Zhdan V. N., Kyrian O. A., Babanina M. Yu., Kitura Ye. M., Tkachenko M. V.

CLINICAL AND EXPERIMENTAL MEDICINE

Scentific article

This article covers a case of a rare genetic disorder – Wilson’s disease. It is an autosomal recessive inherited disorder that attracts the close attention of scientists since the disease affects many organs and systems of a patient and can develop both in children and in adults. Wilson’s disease occurs with similar frequency throughout the world. It is caused by mutations in the ATP7B gene identified on the long arm of the 13th chromosome, as well as by the heterozygous carriage. The copper metabolism disorder determined by the genetic changes plays a major role in the development of Wilson’s disease. The excess copper accumulates in the liver parenchyma, nervous tissue and in the peripheral cornea (so-called Kayser-Fleischer rings) which results in subsequent organ damage. Since there is no unified examination that could confirm or rule out Wilson’s disease, it is necessary that doctors are able to define the symptoms of this disease. The early detection of symptoms and diagnostic studies can improve the disease prognosis. The aim of our research was to study the debut of Wilson’s disease in a 39-year-old patient with comorbid pathology. We also analyzed the difficulties of managing patients with Wilson’s disease in the example of this clinical case. We considered different mechanisms of the disease development and peculiarities of the diagnosis of atypical symptoms using international recommendations and protocols. The difficulty of our clinical case was that the symptoms of the disease with a comorbid pathology were atypical at the early stage of the illness. We did not detect damage to the nervous system, as well as ophthalmological features, and changes in the amount of free copper, ceruloplasmin levels and rate of 24-hour urinary copper excretion. It was proven that detection of these biochemical markers in blood and urine is important in ruling out Wilson’s disease in a patient with cirrhosis of the liver even if the other organs that were usually affected by copper were not damaged. Prompt diagnosis of the markers of Wilson’s disease and corresponding treatment can prevent the progression of the disease and its complications in such patients. Our research can be useful for gastroenterologists, neuropathologists, family physicians, and doctors of other specialties.

Wilson’s disease,comorbidity,diagnosis.

1. Dzieżyc-Jaworska K, Litwin T, Członkowska A. Clinical manifestations of Wilson disease in organs other than the liver and brain. Ann Transl Med. 2019 Apr 7;2:62. DOI: 10.21037/atm.2019.03.30.
2. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson’s disease. J Hepatol. 2012 Mar 56(3):671-85. DOI: 10.1016/j.jhep.2011.11.007.
3. Kasztelan-Szczerbinska B, Cichoz-Lach H. Wilson’s Disease: An Update on the Diagnostic Workup and Management. J Clin Med. 2021 Oct 30;10(21):5097. DOI: 10.3390/jcm10215097.
4. Poujois A, Woimant F. Challenges in the diagnosis of Wilson disease. Ann Transl Med. 2019 Apr 7;2:67. DOI: 10.21037/atm.2019.02.10.
5. Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Wilson disease. Nat Rev Dis Primers. 2018 Sep 6;4(1):21. DOI: 10.1038/s41572-018-0018-3.
6. Cleymaet S, Nagayoshi K, Gettings E, Faden J. A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease. Expert Rev Neurother. 2019;11:1117-26. DOI: 10.1080/14737175.2019. 1645009.
7. Pfeiffer RF. Wilson Disease. Continuum (Minneap Minn). 2016 Aug 22;4:1246-61. DOI: 10.1212/CON.0000000000000350.
8. Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000 Nov 13;7(5):719- 22. DOI: 10.1067/mpd.2000.108569.
9. Ferenci P, Członkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, et al. Late-onset Wilson’s disease. Gastroenterology. 2007 Apr 13;2(4):1294-8. DOI: 10.1053/j.gastro.2007.02.057.
10. Zhdan VN, Tkachenko MV, Babanina MYu, Kitura YeM, Kyrian OA. The most common causes of comorbidity in patients with rheumatoid arthritis. Family Medicine. 2021;4(96):79-83. [in Ukrainian].
11. Hou Y, Li F, Chen J, Zhao J, Li D, Chen H. Clinical significance of serum human epididymis protein 4 in liver fibrosis: An experimental study. Medicine (Baltimore). 2020 Nov 25;99(48):e23428. DOI: 10.1097/MD. 0000000000023428.

«Bulletin of problems biology and medicine» Issue 3 (166), 2022 year, 184-193 pages, index UDK 616.36:616.89:575.113-07-07

10.29254/2077-4214-2022-3-166-184-193