Wilson's disease - a current approach to diagnostics and treatment. A literature review

• Autorzy: Gabriela Licak , Paulina Bętkowska , Paweł Olko , Magda Żuchnik , Agnieszka Rybkowska , Julia Tomkiewicz , Jakub Radulski , Piotr Sałata , Paulina Szczuraszek , Hugo Szczuraszek
• Języki publikacji: EN

Abstrakty

EN

Introduction and purpose Wilson's disease is a rare autosomal recessive genetic disorder of copper metabolism. Its global genetic prevalence is estimated at around 1:30 000. However, in the case of many patients, it takes a long time to make a diagnosis, which delays introducing the right treatment. This review aims to gather current knowledge about clinical manifestations, diagnosis, and treatment of Wilson's disease. Material and methods This review was based on available data collected in the PubMed database, using the following keywords: "Wilson's disease", "Wilson's disease treatment", "Wilson's disease Pathogenesis", and "Wilson's disease Diagnosis". Conclusions The diagnosis of Wilson's disease is often delayed due to the wide spectrum of clinical manifestations. Screening of family members of people affected with Wilson's disease can speed up the diagnosis in yet asymptomatic patients. Raising awareness about Wilson's disease and diagnosing patients before the onset of serious symptoms may bring earlier diagnosis and improvement in the patient's quality of life. (original abstract)

Słowa kluczowe

EN

Sport; Physical activity; Health; Lifestyle

PL

Sport; Aktywność fizyczna; Zdrowie; Styl życia

• Czasopismo: Quality in Sport
• Rocznik: 2023
• Tom: 9
• Numer: nr 1
• Strony: 63--70

Twórcy

autor

Gabriela Licak

• Wojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie

autor

Paulina Bętkowska

• Wojewódzki Szpital Specjalistyczny im. Stefana Kardynała Wyszyńskiego SPZOZ w Lublinie

autor

Paweł Olko

• Samodzielny Publiczny Szpital Kliniczny nr 4 w Lublinie

autor

Magda Żuchnik

• Samodzielny Publiczny Szpital Kliniczny nr 4 w Lublinie

autor

Agnieszka Rybkowska

• Samodzielny Publiczny Szpital Kliniczny nr 4 w Lublinie

autor

Julia Tomkiewicz

• Kliniczny Szpital Wojewódzki nr 1 im. F. Chopina w Rzeszowie

autor

Jakub Radulski

• Samodzielny Publiczny Szpital Kliniczny nr 1 w Lublinie

autor

Piotr Sałata

• Wojewódzki Szpital Zespolony im. Ludwika Perzyny w Kaliszu

autor

Paulina Szczuraszek

• Wojewódzki Szpital Zespolony im. Ludwika Perzyny w Kaliszu

autor

Hugo Szczuraszek

• Zespół Zakładów Opieki Zdrowotnej w Ostrowie Wielkopolskim

Bibliografia

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• Nagral A, Sarma MS, Matthai J, Kukkle PL, Devarbhavi H, Sinha S, Alam S, Bavdekar A, Dhiman RK, Eapen CE, Goyal V, Mohan N, Kandadai RM, Sathiyasekaran M, Poddar U, Sibal A, Sankaranarayanan S, Srivastava A, Thapa BR, Wadia PM, Yachha SK, Dhawan A. Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. J Clin Exp Hepatol. 2019 Jan-Feb;9(1):74-98. doi: 10.1016/j.jceh.2018.08.009. Epub 2018 Sep 3. Erratum in: J Clin Exp Hepatol. 2020 Jan-Feb;10(1):99. PMID: 30765941; PMCID: PMC6363961.
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Identyfikatory

DOI

10.12775/QS.2023.09.01.008